web contact: pietsch@indiana.edu
Goldenhar Syndrome, a term that is often used synonymously with "Oculo-Auriculo-Vertebral (OAV) Spectrum," is a rare disorder that is apparent at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.Additional information can be obtained through the following support organization:Click NORD for more data.
TITLE: Accessory tragus: report of two cases and review of the literature.
AUTHOR: Jansen,-T; Romiti,-R; Altmeyer,-P
ADDRESS OF AUTHOR: Department of Dermatology, Ruhr-University Bochum, Germany.
SOURCE: Pediatr-Dermatol. 2000 Sep-Oct; 17(5): 391-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-8046
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Accessory tragus is a fairly common congenital malformation of the external ear. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial arch. Accessory tragus is a consistent feature of the oculoauriculovertebral syndrome (Goldenhar syndrome). When correctly identified, surgical excision of accessory tragus is quite simple and rarely results in any complications.
MAJOR MESH DESCRIPTORS: *Abnormalities-diagnosis; *Ear,-External-abnormalities; *Skin-Neoplasms-diagnosis
MINOR MESH DESCRIPTORS: Abnormalities-pathology; Child,-Preschool; Diagnosis,-Differential; Ear-Cartilages-abnormalities; Infant-; Skin-Diseases-diagnosis; Skin-Neoplasms-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review-of-Reported-Cases
SUBHEADINGS: diagnosis; pathology; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20010215
ACCESSION NUMBER: 20536120
RECORD FEATURES: ABSTRACT (AB)
Record 2 of 99 in MEDLINE (R) 2001/01-2001/02
TITLE: [Oculo-auriculo-vertebral spectrum]
AUTHOR: Izumikawa,-Y
SOURCE: Ryoikibetsu-Shokogun-Shirizu. 2000; (30 Pt 5): 220-1
PUBLICATION YEAR: 2000
LANGUAGE: Japanese; Non-English
COUNTRY OF PUBLICATION: JAPAN
MAJOR MESH DESCRIPTORS: *Goldenhar-Syndrome-etiology; *Goldenhar-Syndrome-physiopathology
MINOR MESH DESCRIPTORS: Chromosome-Abnormalities; Diagnosis,-Differential; Prognosis-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: etiology; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20010125
ACCESSION NUMBER: 20510968
Record 3 of 99 in MEDLINE (R) 2001/01-2001/02
TITLE: Unilateral semicircular canal aplasia in Goldenhar's syndrome.
AUTHOR: Lemmerling,-M-M; Vanzieleghem,-B-D; Mortier,-G-R; Dhooge,-I-J; Kunnen,-M-F
ADDRESS OF AUTHOR: Department of Radiology, University Hospital Gent, Belgium.
SOURCE: AJNR-Am-J-Neuroradiol. 2000 Aug; 21(7): 1334-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.
MAJOR MESH DESCRIPTORS: *Goldenhar-Syndrome-diagnosis; *Magnetic-Resonance-Imaging; *Semicircular-Canals-abnormalities; *Tomography,-X-Ray-Computed
MINOR MESH DESCRIPTORS: Fourier-Analysis; Image-Processing,-Computer-Assisted; Imaging,-Three-Dimensional; Infant-; Semicircular-Canals-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; abnormalities; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20010111
ACCESSION NUMBER: 20408393
RECORD FEATURES: ABSTRACT (AB)
Record 4 of 99 in MEDLINE (R) 2001/01-2001/02
TITLE: Nuchal translucency in multiple pregnancies.
AUTHOR: Monni,-G; Zoppi,-M-A; Ibba,-R-M; Putzolu,-M; Floris,-M
ADDRESS OF AUTHOR: Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Regionale per le Microcitemie, Via Jenner 09121 Cagliari, Italy. prenatalmonni@tiscalinet.it
SOURCE: Croat-Med-J. 2000 Sep; 41(3): 266-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0353-9504
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: CROATIA
ABSTRACT: AIM: To evaluate the prevalence of increased nuchal translucency (NT) in multiple pregnancies and its relation to fetal karyotype and pregnancy outcome. METHODS: We measured fetal nuchal translucency (NT) in 6,338 women pregnant from 10+3 to 13+6 weeks by ultrasound and evaluated the prevalence of NT=95th centile in 115 multiple pregnancies, including 100 pairs of twins (70 dichorionic and 30 monochorionic placentas), 9 triplets, 5 quadruplets, and one quintuplet. Chorionicity, fetal karyotype, and pregnancy outcome were also evaluated in 400 singleton pregnancies. RESULTS: NT=95th centile in a single fetus was found in 10/70 cases of dichorionic twin pregnancies (14%), in two quadruplets, in 7/30 monochorionic twin pregnancies (23.3%), and in both fetuses in one dichorionic twin pregnancy. In the control group, NT=95th centile was found in 17/400 (4.2%) cases. In multiple pregnancies, two cases of trisomy 21 and one of 47, XXY were found. NT=95th centile was found in 2/2 fetuses with trisomy 21 (one dichorionic twin pregnancy and one tetrachorionic pregnancy), but not in the 47, XXY trisomy (trichorionic triplet pregnancy). A skeletal dysplasia and a Goldenhar syndrome were found among the 10 dichorionic pregnancies with increased NT. Three intrauterine deaths of both fetuses, one congenital heart disease, and a case of twin-to-twin transfusion occurred in 7 monochorionic pregnancies with increased NT. CONCLUSION: Increased NT in multiple pregnancies indicates fetuses at risk of chromosomal abnormalities and fetal malformation, and monochorionic twin pregnancies at higher risk of adverse outcome.
MAJOR MESH DESCRIPTORS: *Abnormalities-ultrasonography; *Neck-ultrasonography; *Pregnancy,-Multiple; *Ultrasonography,-Prenatal
MINOR MESH DESCRIPTORS: Adult-; Chromosome-Abnormalities-ultrasonography; Pregnancy-Outcome
CHECKTAGS: Comparative-Study; Female; Human; Pregnancy; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20001214
ACCESSION NUMBER: 20420554
RECORD FEATURES: ABSTRACT (AB)
Record 5 of 99 in MEDLINE (R) 2001/01-2001/02
TITLE: Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?
AUTHOR: Cohen,-J; Schanen,-N-C
ADDRESS OF AUTHOR: Department of Pediatrics, University of California, Los Angeles 90095-7088, USA.
SOURCE: Genet-Couns. 2000; 11(2): 153-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Biliary-Atresia-genetics; *Branchioma-genetics; *Goldenhar-Syndrome-genetics; *Head-and-Neck-Neoplasms-genetics; *Heart-Defects,-Congenital-genetics
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-diagnosis; Biliary-Atresia-diagnosis; Branchioma-diagnosis; Diagnosis,-Differential; Genetic-Counseling; Goldenhar-Syndrome-diagnosis; Head-and-Neck-Neoplasms-diagnosis; Heart-Defects,-Congenital-diagnosis; Infant-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; genetics
SUBSET: Index-Medicus
UPDATE CODE: 20001121
ACCESSION NUMBER: 20352131
RECORD FEATURES: ABSTRACT (AB)
Record 6 of 99 in MEDLINE EXPRESS (R) 2000/11-2000/12
TITLE: Hemifacial spasm or subcortical epilepsy?
AUTHOR(S): Arzimanoglou-AA; Salefranque-F; Goutieres-F; Aicardi-J
ADDRESS OF AUTHOR: Child Neurology and Metabolic Diseases Dpt., Hopital Robert-Debre, Paris, France. alexis.arzimanoglou@rdb.ap-hop-paris.fr
SOURCE (BIBLIOGRAPHIC CITATION): Epileptic-Disord. 1999 Jun; 1(2): 121-5
INTERNATIONAL STANDARD SERIAL NUMBER: 1294-9361
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cerebellar-Diseases-diagnosis; Cerebellar-Diseases-physiopathology; Cerebellum-physiopathology; Child-; Child,-Preschool; Epilepsies,-Partial-physiopathology; Follow-Up-Studies; Goldenhar-Syndrome-physiopathology; Hamartoma-diagnosis; Hamartoma-physiopathology; Hemifacial-Spasm-physiopathology; Infant-; Magnetic-Resonance-Imaging; Medulla-Oblongata-abnormalities; Medulla-Oblongata-physiopathology; Pons-abnormalities; Pons-physiopathology
MAJOR MeSH HEADINGS: *Epilepsies,-Partial-diagnosis; *Goldenhar-Syndrome-diagnosis; *Hemifacial-Spasm-diagnosis
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20392833
UPDATE CODE: 200011
Record 7 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Pulsatile expansion therapy for orbital enlargement.
AUTHOR(S): Wagner-A; Schneider-C; Lagogiannis-G; Hollman-K
ADDRESS OF AUTHOR: Clinic of Maxillofacial Surgery, Vienna Medical School, University of Vienna, Austria. arnewagner@univie.ac.at
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Oral-Maxillofac-Surg. 2000 Apr; 29(2): 91-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0901-5027
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Experimental and clinical investigations have documented the modulatory role of the globe in the development of the orbit. In cases of absence or early loss of the globe, severe hypoplasia of the orbit and midface has been reported by several authors. Statical conformers and orbital osteotomies have been used to correct the resulting facial asymmetry. When replacing such conformers by increasingly larger ones, orbital structures are negatively influenced by the repeated trauma of surgical interventions. Simulating the modulatory role of the globe on orbital growth was the objective when developing a pulsatile device for orbital enlargement in cases of anophthalmia and microrbitism. The design, application and preliminary experience with a dynamic, pulsatile expanding system are presented.
MINOR MESH HEADINGS: Bone-Development-physiology; Carotid-Arteries-physiology; Child-; Goldenhar-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Anophthalmos-physiopathology; *Orbit-growth-and-development; *Pulsatile-Flow-physiology; *Tissue-Expanders
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20290740
UPDATE CODE: 200010
SUBSET: DENTAL
Record 8 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Goldenhar syndrome: a polymalformation syndrome with conductive hearing loss]
ORIGINAL TITLE: Sindrome de Goldenhar. Un sindrome polimalformativo con hipoacusia de transmision
AUTHOR(S): Santa-Cruz-Ruiz-S; Aguirre-Garcia-F; Perez-Plasencia-D; Blanco-Perez-P; Guillen-Guerrero-V; Del-Canizo-Alvarez-A
ADDRESS OF AUTHOR: Servicio de Otorrinolaringologia y Patologia Cervico-Facial, Hospital Clinico de Salamanca.
SOURCE (BIBLIOGRAPHIC CITATION): An-Otorrinolaringol-Ibero-Am. 2000; 27(2): 161-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0303-8874
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: We report the case of a 9-years-old girl showing at examination facial asymmetry, right ear with II degree dysplasy and degree III in the left ear (according Marx classification), cleft palate, renal agenesy, scoliosis and hypoplasy of the left thumb. Otoscopically both external ear canals looked very narrow and very upright positioned. The drumhead image recalling that of chronic mucoid effusion. The measurement of hearing through pure-tone audiometry, PEATC, and tympanometry resulted in a pattern of bilateral transmissive pantonal hearing impairment accounting for 50-60 dB. Scoliosis was due either to bars or hemivertebrae or even to an atlas occipitalization. Chromosoma caryotype was normal.
MINOR MESH HEADINGS: Abnormalities,-Multiple; Child-; Ear-Ossicles-abnormalities; Ear-Ossicles-radiography; Ear-Ossicles-surgery; English-Abstract; Ossicular-Replacement; Severity-of-Illness-Index
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-diagnosis; *Hearing-Loss,-Conductive-diagnosis
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20288303
UPDATE CODE: 200009
Record 9 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Goldenhar syndrome with rare associations.
AUTHOR(S): Kumar-R; Balani-B; Patwari-AK; Anand-VK; Ahuja-B
ADDRESS OF AUTHOR: Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi.
SOURCE (BIBLIOGRAPHIC CITATION): Indian-J-Pediatr. 2000 Mar; 67(3): 231-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0019-5456
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: INDIA
ABSTRACT: Goldenhar syndrome is a malformation complex involving the structures arising from first and second branchial arches, the first pharyngeal pouch, first branchial cleft and primordia of the temporal bone. Though the syndrome itself is not very rare, the presence of polydactyly and hydrocephalus, which are rare associations, prompted us to report this case.
MINOR MESH HEADINGS: Infant-; Infant,-Newborn
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Goldenhar-Syndrome-diagnosis; *Hydrocephalus-complications; *Polydactyly-complications
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20297219
UPDATE CODE: 200009
Record 10 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Treatment of epibulbar limbal dermoids [clinical conference]
AUTHOR(S): Kaufman-A; Medow-N; Phillips-R; Zaidman-G; Wagner-RS
ADDRESS OF AUTHOR: Corneal and Refractive Surgery Service, University of Cincinnati, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Ophthalmic-Nurs-Technol. 1999 Jul-Aug; 18(4): 172-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0744-7132
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Child,-Preschool; Corneal-Diseases-pathology; Dermoid-Cyst-pathology; Eye-Neoplasms-pathology
MAJOR MeSH HEADINGS: *Corneal-Diseases-therapy; *Dermoid-Cyst-therapy; *Eye-Neoplasms-therapy; *Goldenhar-Syndrome-therapy
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: CLINICAL-CONFERENCE; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20306405
UPDATE CODE: 200008
SUBSET: NURSING
Record 11 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Congenital corneal anesthesia in children: diagnostic and therapeutic problems]
ORIGINAL TITLE: Anesthesie corneenne congenitale chez l'enfant : problemes diagnostiques et therapeutiques.
AUTHOR(S): Momtchilova-M; Pelosse-B; Mathieu-S; Laroche-L; Billette-de-Villemeur-T
ADDRESS OF AUTHOR: Service d'Ophtalmologie.
SOURCE (BIBLIOGRAPHIC CITATION): J-Fr-Ophtalmol. 2000 Mar; 23(3): 245-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0181-5512
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: Congenital corneal anesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 9-month-old girl who presented bilateral congenital corneal anesthesia. The child had a corneal ulcer which had been unresponsive to adapted local treatment. Self-inflicted corneal injuries were present. Local treatment and arm splints led to quick healing. CCA occurs either alone or in association with neurological diseases (familial dysautonomia) or systemic congenital abnormalities (Goldenhar Gorlin syndrome). It is important to search for corneal anesthesia in children with chronic ulcerations of the cornea and self-inflicted injuries. Early diagnosis is important due to the risk for the visual prognosis. Short and longterm prevention of self-inflicted corneal injuries should be associated with a local treatment to assure rapid healing and a relapse free outcome.
MINOR MESH HEADINGS: Corneal-Ulcer-diagnosis; Diagnosis,-Differential; English-Abstract; Face-abnormalities; Goldenhar-Syndrome-diagnosis; Infant-; Prognosis-; Self-Mutilation-diagnosis; Self-Mutilation-prevention-and-control
MAJOR MeSH HEADINGS: *Cornea-injuries; *Corneal-Diseases-diagnosis; *Pain-Insensitivity,-Congenital-diagnosis; *Self-Mutilation
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20206802
UPDATE CODE: 200008
Record 12 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Congenital anomalies in patients with Duane retraction syndrome and their relatives.
AUTHOR(S): Marshman-WE; Schalit-G; Jones-RB; Lee-JP; Matthews-TD; McCabe-S
ADDRESS OF AUTHOR: Strabismus and Paediatric Service and the Department of Orthoptics, Moorfields Eye Hospital, City Road, London, England.
SOURCE (BIBLIOGRAPHIC CITATION): J-AAPOS. 2000 Apr; 4(2): 106-9
INTERNATIONAL STANDARD SERIAL NUMBER: 1091-8531
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: Although the high incidence of skeletal, neural, and other ocular problems has been identified in previous reports of large cohorts of patients with Duane syndrome, there has not been any documentation of anomalies in close relatives. Patients with Duane syndrome have a greater than 50% incidence of associated abnormalities that include deafness, other ocular anomalies, cranial nerve palsies, and skeletal abnormalities. This study was undertaken to review the experience of our strabismus service with patients who have Duane retraction syndrome (DRS) and to delineate the associated anomalies in them and their first-degree relatives. METHODS: A prospective study of all patients with Duane syndrome who were seen at the strabismus service at Moorfields Eye Hospital has been ongoing for the last 4 years. All patients were assessed for the presence of ophthalmologic features of DRS and then referred to the pediatric service for a physical and neurologic examination. First-degree relatives were also examined, and a family pedigree was generated. RESULTS: We have evaluated 68 patients with DRS, of which 60.2% were female patients. The left eye was involved at a ratio of 4:1 in unilateral cases. The number of bilateral cases was 57.3%. Among the patients with DRS, 46% had first-degree relatives with associated abnormalities. CONCLUSIONS: The high incidence of associated anomalies in patients and first-degree relatives may suggest that a common genetic defect is responsible. This has to be confirmed with molecular genetic studies, which were not performed on these families because of a lack of available resources. However, our findings may indicate that the inheritance of Duane syndrome is much higher than the 10% previously reported, if any congenital abnormality is accepted as DRS associated. Children with Duane syndrome may benefit from a full medical assessment, in view of the frequency of other abnormalities, and so may their siblings.
MINOR MESH HEADINGS: Child-; Duane-Retraction-Syndrome-complications; Goldenhar-Syndrome-genetics; Pedigree-; Prospective-Studies
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Bone-and-Bones-abnormalities; *Duane-Retraction-Syndrome-genetics; *Ear-abnormalities; *Eye-Abnormalities-genetics; *Nervous-System-Malformations-genetics
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20238154
UPDATE CODE: 200008
Record 13 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A modified nasopharyngeal tube to relieve high upper airway obstruction.
AUTHOR(S): Chang-AB; Masters-IB; Williams-GR; Harris-M; O'Neil-MC
ADDRESS OF AUTHOR: Department of Respiratory Medicine, Mater Misericordiae Children's Hospital, South Brisbane, Queensland, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Pulmonol. 2000 Apr; 29(4): 299-306
INTERNATIONAL STANDARD SERIAL NUMBER: 8755-6863
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Infants with high upper airway obstruction (UAO) are managed with a variety of techniques to relieve their UAO. Among these techniques, the least invasive and safest is the nasopharyngeal tube (NPT). However, the traditional NPT is not always satisfactory, and tracheostomies need to be done. We recently described a modified NPT technique that, in contrast to the traditional tube, does not add airway dead space and resistance, is easy to use, is well-tolerated, has proven highly successful, and allows the simultaneous use of oxygen nasal prongs. This modified NPT has many advantages over the traditional NPT as a temporary management of high UAO that resolves with growth of the infant. This report highlights the respiratory care of 10 infants with high UAO (Pierre Robin syndrome, Down syndrome, Goldenhar syndrome, isolated microngathia, and idiopathic hypotonia) who were managed with a modified NPT. The modified NPT described potentially reduces the need for surgical intervention to relieve high UAO in infants. Copyright 2000 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Airway-Obstruction-etiology; Infant,-Newborn; Intubation-methods; Pierre-Robin-Syndrome-complications; Pierre-Robin-Syndrome-therapy; Polysomnography-
MAJOR MeSH HEADINGS: *Airway-Obstruction-therapy; *Intubation-instrumentation; *Nasopharynx-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20202513
UPDATE CODE: 200006
Record 14 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: [Mixed hearing loss in the case of Goldenhar-Gorlin syndrome]
ORIGINAL TITLE: Niedosluch mieszany w zespole Goldenhara-Gorlina.
AUTHOR(S): Obrebowski-A; Krasny-J; Wojnowski-W; Kurywczak-Grykiel-K
ADDRESS OF AUTHOR: Klinika Foniatrii i Audiologii Akademii Medycznej, Poznaniu.
SOURCE (BIBLIOGRAPHIC CITATION): Otolaryngol-Pol. 1999; 53(5): 639-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0030-6657
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: POLISH; NON-ENGLISH
COUNTRY OF PUBLICATION: POLAND
ABSTRACT: The authors describe a rare case of Goldenhar-Gorlin Syndrome, also called oculoauriculovertebral dysplasia (OAV) or hemifacial microsomia. Goldenhar's syndrome was accompanied by hearing loss caused by deformity of the auricle and atresia of the external auditory canal.
MINOR MESH HEADINGS: Audiometry,-Pure-Tone-methods; Child,-Preschool; English-Abstract; Evoked-Potentials,-Auditory,-Brain-Stem-physiology; Hearing-Loss,-Conductive-diagnosis; Hearing-Loss,-Sensorineural-diagnosis
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Goldenhar-Syndrome-diagnosis; *Hearing-Loss,-Conductive-complications; *Hearing-Loss,-Sensorineural-complications
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20154517
UPDATE CODE: 200005
Record 15 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Rapid protyping technology in medicine--basics and applications.
AUTHOR(S): Petzold-R; Zeilhofer-HF; Kalender-WA
ADDRESS OF AUTHOR: Institute of Medical Physics, University of Erlangen-Nuremberg, Erlangen, Germany. ralf.petzold@imp.uni-erlangen.de
SOURCE (BIBLIOGRAPHIC CITATION): Comput-Med-Imaging-Graph. 1999 Sep-Oct; 23(5): 277-84
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-6111
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Using medical models built with Rapid Prototyping (RP) technologies represents a new approach for surgical planning and simulation. These techniques allow one to reproduce anatomical objects as 3D physical models, which give the surgeon a realistic impression of complex structures before a surgical intervention. The shift from the visual to the visual-tactile representation of anatomical objects introduces a new kind of interaction called 'touch to comprehend'. As can be seen, from the presented case studies of maxillo-cranio-facial surgery, the RP models are very well suited for use in the diagnosis and the precise preoperative simulation of skeleton modifying interventions.
MINOR MESH HEADINGS: Acrocephalosyndactylia-surgery; Adult-; Child,-Preschool; Craniosynostoses-surgery; Diagnostic-Imaging; Goldenhar-Syndrome-surgery; Lasers-; Osteotomy,-Le-Fort-methods; Plastics-; Polyurethanes-; Resins,-Synthetic; Therapy,-Computer-Assisted
MAJOR MeSH HEADINGS: *Computer-Aided-Design; *Face-surgery; *Jaw-surgery; *Models,-Anatomic; *Patient-Care-Planning; *Skull-surgery
CHECKTAGS: Case-Report; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: Plastics; Polyurethanes; Resins,-Synthetic
MEDLINE ACCESSION NUMBER: 20102196
UPDATE CODE: 200004
Record 16 of 99 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Epidemiology of cleft lip and palate in Singapore--a 10-year hospital-based study.
AUTHOR(S): Yi-NN; Yeow-VK; Lee-ST
ADDRESS OF AUTHOR: Department of Plastic Surgery, Singapore General Hospital, Singapore.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Acad-Med-Singapore. 1999 Sep; 28(5): 655-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0304-4602
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SINGAPORE
ABSTRACT: During the study period from January 1985 to December 1994, there were 1105 new cleft cases seen in the Department of Plastic Surgery, Singapore General Hospital. These included newborn as well as unoperated children and adult cases. During the same period, the total number of recorded births in Singapore was 474,542. Out of the 1105 new cleft cases seen, 984 were Singaporeans. The incidence of this hospital-based study of cleft population in Singapore was 2.07 per 1000 livebirths. Chinese had the highest incidence of 1.64 per 1000 as compared to Malay, Indian and other races. The most common type of cleft deformity was complete cleft lip and palate. The left side was found to be more affected than the right side in all types of cleft deformity. There was no significant difference in sex distribution; the male to female ratio was 1.1:1. However, females had a higher incidence of cleft palate than males. Associated congenital deformities occurred in 1.5% of the total cleft population.
MINOR MESH HEADINGS: Acrocephalosyndactylia-complications; Cleft-Lip-complications; Cleft-Lip-surgery; Cleft-Palate-complications; Cleft-Palate-surgery; Goldenhar-Syndrome-complications; Heart-Defects,-Congenital-complications; Hospitals-statistics-and-numerical-data; Infant,-Newborn; Lip-abnormalities; Lip-surgery; Palate-abnormalities; Palate-surgery; Pierre-Robin-Syndrome-complications; Retrospective-Studies; Sex-Factors; Singapore-epidemiology; Time-Factors
MAJOR MeSH HEADINGS: *Cleft-Lip-epidemiology; *Cleft-Palate-epidemiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20065217
UPDATE CODE: 200003
Record 17 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cervical vertebral anomalies in patients with anomalies of the head and neck.
AUTHOR(S): Manaligod-JM; Bauman-NM; Menezes-AH; Smith-RJ
ADDRESS OF AUTHOR: Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Otol-Rhinol-Laryngol. 1999 Oct; 108(10): 925-33
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-4894
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Congenital head and neck anomalies can occur in association with vertebral anomalies, particularly of the cervical vertebrae. While the former are easily recognized, especially when part of a syndrome, the latter are often occult, thereby delaying their diagnosis. The presence of vertebral anomalies must be considered in pediatric patients with head and neck abnormalities to expedite management of select cases and to prevent neurologic injury. We present our experience with 5 pediatric patients who were referred to the Department of Otolaryngology-Head and Neck Surgery at the University of Iowa with a variety of syndromic anomalies of the head and neck. Each patient was subsequently also found to have a vertebral anomaly. The relevant embryogenesis of the anomalous structures is discussed, with highlighting of potential causes such as teratogenic agents and events and germ-line mutations. A review of syndromes having both head and neck and vertebral anomalies is presented to heighten awareness of otolaryngologists evaluating children with syndromic disorders. Finally, the findings on radiographic imaging studies, particularly computed tomography, are discussed to facilitate the prompt diagnosis of vertebral anomalies.
MINOR MESH HEADINGS: Abnormalities,-Multiple; Adolescence-; Cervical-Vertebrae-radiography; Child-; Down-Syndrome-diagnosis; Goldenhar-Syndrome-diagnosis; Head-radiography; Infant-; Klippel-Feil-Syndrome-diagnosis; Neck-radiography; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cervical-Vertebrae-abnormalities; *Head-abnormalities; *Neck-abnormalities
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99453970
UPDATE CODE: 200001
SUBSET: AIM
Record 18 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Auditory and facial nerve dysfunction in patients with hemifacial microsomia.
AUTHOR(S): Carvalho-GJ; Song-CS; Vargervik-K; Lalwani-AK
ADDRESS OF AUTHOR: Department of Otolaryngology-Head and Neck Surgery, University of California, San Francisco, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Otolaryngol-Head-Neck-Surg. 1999 Feb; 125(2): 209-12
INTERNATIONAL STANDARD SERIAL NUMBER: 0886-4470
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Hemifacial microsomia (HFM) is a common craniofacial disorder characterized by a wide spectrum of anomalies, including conductive hearing loss due to external and middle ear deformities. However, the prevalence of sensorineural hearing loss (SNHL) as well as facial nerve dysfunction is underappreciated. OBJECTIVE: To determine the frequency of auditory and facial nerve dysfunction and its relationship to more severe forms of bilateral HFM. DESIGN: Retrospective medical record review to characterize the clinical severity of HFM and the prevalence and nature of the associated auditory and facial nerve dysfunction. SETTING: Center for Craniofacial Anomalies at the University of California, San Francisco, Medical Center. PATIENTS: Ninety-nine pediatric patients with HFM evaluated at the University of California, San Francisco, Medical Center. MAIN OUTCOME MEASURES: The prevalence of SNHL and facial nerve dysfunction in this patient population and any associations between these 2 characteristics. RESULTS: Hearing loss was present in 74 (75%) of 99 patients, with a conductive component in 73 patients. Sensorineural hearing loss was present in 11 patients ( 11%), with mixed hearing loss in most patients. Fourteen patients required rehabilitation with auditory amplification. Nearly a quarter of the patients (22 [22%] of 99) had facial nerve dysfunction, but only 1 patient had facial palsy on the same side as the SNHL. There was a statistically significant association between having auricular abnormalities and conductive hearing loss or SNHL (P = .30 and .80, respectively). However, there was no statistically significant association between bilateral HFM and the occurrence of either SNHL or facial paralysis, nor was there an association between auditory and facial nerve dysfunction. CONCLUSIONS: Sensorineural hearing loss and facial nerve dysfunction are common in HFM. These findings have important implications in the treatment of patients with HFM.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Facial-Asymmetry-diagnosis; Facial-Asymmetry-physiopathology; Facial-Paralysis-congenital; Facial-Paralysis-diagnosis; Facial-Paralysis-physiopathology; Goldenhar-Syndrome-physiopathology; Hearing-Loss,-Conductive-congenital; Hearing-Loss,-Conductive-diagnosis; Hearing-Loss,-Conductive-physiopathology; Hearing-Loss,-Sensorineural-congenital; Hearing-Loss,-Sensorineural-diagnosis; Hearing-Loss,-Sensorineural-physiopathology; Infant-; Retrospective-Studies; San-Francisco
MAJOR MeSH HEADINGS: *Facial-Asymmetry-congenital; *Facial-Nerve-physiopathology; *Goldenhar-Syndrome-diagnosis; *Vestibulocochlear-Nerve-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99154892
UPDATE CODE: 199905
SUBSET: AIM
Record 19 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Mesenchymal chondrosarcoma associated with Goldenhar's syndrome.
AUTHOR(S): Ostlere-SJ; McDonald-B; Athanasou-NA
ADDRESS OF AUTHOR: Department of Pathology and Radiology, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Orthop-Trauma-Surg. 1999; 119(5-6): 347-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0936-8051
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Goldenhar's syndrome is characterised by bony abnormalities of the face, jaw and vertebral column. We report the first case of the development of a primary malignant neoplasm (mesenchymal chondrosarcoma) initially misdiagnosed as a meningioma, occurring in association with this syndrome.
MINOR MESH HEADINGS: Adult-; Bone-Neoplasms-complications; Bone-Neoplasms-diagnosis; Bone-Neoplasms-surgery; Chondrosarcoma-complications; Chondrosarcoma-diagnosis; Chondrosarcoma-surgery; Diagnosis,-Differential; Goldenhar-Syndrome-complications; Goldenhar-Syndrome-diagnosis; Goldenhar-Syndrome-surgery; Meningeal-Neoplasms-complications; Meningeal-Neoplasms-diagnosis; Meningeal-Neoplasms-surgery; Meningioma-complications; Meningioma-diagnosis; Meningioma-surgery; Mesoderm-pathology; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Bone-Neoplasms-pathology; *Chondrosarcoma-pathology; *Goldenhar-Syndrome-pathology; *Meningeal-Neoplasms-pathology; *Meningioma-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99376665
UPDATE CODE: 199912
Record 20 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.
AUTHOR(S): Llano-Rivas-I; Gonzalez-del-Angel-A; del-Castillo-V; Reyes-R; Carnevale-A
ADDRESS OF AUTHOR: Departamento de Investigacion en Genetica Humana, Instituto Nacional de Pediatria, Secretaria de Salud, Mexico, D.F., Mexico.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Med-Res. 1999 Mar-Apr; 30(2): 120-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0188-0128
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: MEXICO
ABSTRACT: BACKGROUND: Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, there are facial, vertebral, and renal abnormalities, among others. METHODS: A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. RESULTS: No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS. CONCLUSIONS: Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management.
MINOR MESH HEADINGS: Abnormalities-epidemiology; Adolescence-; Child-; Child,-Preschool; Goldenhar-Syndrome-epidemiology; Goldenhar-Syndrome-genetics; Goldenhar-Syndrome-pathology; Government-Agencies; Infant-; Mexico-epidemiology; Pediatrics-; Pedigree-
MAJOR MeSH HEADINGS: *Ear-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99301033
UPDATE CODE: 199909
Record 21 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar anomaly in one of triplets derived from in vitro fertilization [letter]
AUTHOR(S): Ferraris-S; Silengo-M; Ponzone-A; Perugini-L
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 167-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Diagnosis,-Differential; Infant,-Newborn
MAJOR MeSH HEADINGS: *Fertilization-in-Vitro; *Goldenhar-Syndrome-diagnosis; *Triplets-
CHECKTAGS: Female; Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 99255343
UPDATE CODE: 199909
Record 22 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Treatment of epibulbar limbal dermoids.
AUTHOR(S): Kaufman-A; Medow-N; Phillips-R; Zaidman-G
ADDRESS OF AUTHOR: Corneal and Refractive Surgery Service, University of Cincinnati, Ohio, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1999 May-Jun; 36(3): 136-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0191-3913
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Astigmatism-etiology; Child,-Preschool; Corneal-Diseases-complications; Corneal-Diseases-pathology; Dermoid-Cyst-complications; Dermoid-Cyst-pathology; Eye-Neoplasms-complications; Eye-Neoplasms-pathology; Goldenhar-Syndrome-complications; Orbit-; Visual-Acuity
MAJOR MeSH HEADINGS: *Corneal-Diseases-surgery; *Dermoid-Cyst-surgery; *Eye-Neoplasms-surgery; *Limbus-Corneae-pathology
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99286869
UPDATE CODE: 199909
Record 23 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Management of difficult airways with a laryngeal mask airway under propofol anaesthesia.
AUTHOR(S): Bahk-JH; Han-SM; Kim-SD
ADDRESS OF AUTHOR: Department of Anaesthesiology, Seoul National University Hospital, Korea.
SOURCE (BIBLIOGRAPHIC CITATION): Paediatr-Anaesth. 1999; 9(2): 163-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1155-5645
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: We report four cases of difficult airway managed with a laryngeal mask airway (LMA) under propofol anaesthesia; this method was chosen to minimize psychological and physical trauma. Case 1 was a boy with dermatomyositis; Case 2, a girl wearing a base ring of a stereotactic frame; Case 3, a boy with Treacher-Collins syndrome; Case 4, a boy with Goldenhar syndrome. They were anaesthesized with propofol and though spontaneous ventilation became shallower, or apnoea occurred, the stimulus of inserting an LMA awakened the patient and caused more active spontaneous ventilation while a patent airway was established by the LMA. All tracheal intubations were performed smoothly and without delay through the LMA, and we believe that psychological and physical trauma was thus minimized.
MINOR MESH HEADINGS: Child-; Child,-Preschool
MAJOR MeSH HEADINGS: *Anesthesia-; *Anesthetics,-Intravenous; *Intubation,-Intratracheal-methods; *Laryngeal-Masks; *Propofol-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 2078-54-8
NAME OF SUBSTANCE: Anesthetics,-Intravenous; Propofol
MEDLINE ACCESSION NUMBER: 99205658
UPDATE CODE: 199907
Record 24 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
AUTHOR(S): Kohlhase-J; Taschner-PE; Burfeind-P; Pasche-B; Newman-B; Blanck-C; Breuning-MH; ten-Kate-LP; Maaswinkel-Mooy-P; Mitulla-B; Seidel-J; Kirkpatrick-SJ; Pauli-RM; Wargowski-DS; Devriendt-K; Proesmans-W; Gabrielli-O; Coppa-GV; Wesby-van-Swaay-E; Trembath-RC; Schinzel-AA; Reardon-W; Seemanova-E; Engel-W
ADDRESS OF AUTHOR: Institute for Human Genetics, University of Gottingen, Gosslerstr. 12d, D-37073Gottingen, Germany. jkohlha@gwdg.de
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Feb; 64(2): 435-45
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS. To determine the spectrum of SALL1 mutations and to investigate the genotype-phenotype correlations in TBS, we examined 23 additional families with TBS or similar phenotypes for SALL1 mutations. In 9 of these families mutations were identified. None of the mutations has previously been described. Two of these mutations are nonsense mutations, one of which occurred in three unrelated families. Five of the mutations are short deletions. All of the mutations are located 5' of the first double zinc finger (DZF) encoding region and are therefore predicted to result in putative prematurely terminated proteins lacking all DZF domains. This suggests that only SALL1 mutations that remove the DZF domains result in TBS. We also present evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome. However, phenotypic differences in TBS do not seem to depend on the site of mutation.
MINOR MESH HEADINGS: Anus,-Imperforate-genetics; Base-Sequence; Cloning,-Molecular; Exons-; Frameshift-Mutation; Hearing-Loss,-Sensorineural-genetics; Molecular-Sequence-Data; Pedigree-; Polymorphism-Genetics; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Mutation-; *Transcription-Factors-genetics; *Zinc-Fingers-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Hsal1-protein; Transcription-Factors
MEDLINE ACCESSION NUMBER: 99138656
UPDATE CODE: 199906
SECONDARY SOURCE IDENTIFIER: GENBANK/Y18264; GENBANK/Y18265; GENBANK/X98833
Record 25 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Anomalies of the efferent lacrimal ducts in Goldenhar syndrome (news)]
ORIGINAL TITLE: Anomalien der ableitenden Tranenwege bei Goldenhar-Syndrom.
AUTHOR(S): Luchtenberg-M; Blotiu-A; Lindemann-G; Emmerich-KH
ADDRESS OF AUTHOR: Augenklinik Klinikum Darmstadt.
SOURCE (BIBLIOGRAPHIC CITATION): Klin-Monatsbl-Augenheilkd. 1998 Dec; 213(6): aA8-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0023-2165
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
MINOR MESH HEADINGS: Dacryocystitis-therapy; Goldenhar-Syndrome-therapy; Infant-; Lacrimal-Duct-Obstruction-therapy
MAJOR MeSH HEADINGS: *Dacryocystitis-diagnosis; *Goldenhar-Syndrome-diagnosis; *Lacrimal-Apparatus-abnormalities; *Lacrimal-Duct-Obstruction-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: NEWS
MEDLINE ACCESSION NUMBER: 99157534
UPDATE CODE: 199906
Record 26 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Transarterial approach of the pulmonary artery in anatomically corrected malposition of the great arteries by manipulating a catheter inverted with balloon floating maneuver.
AUTHOR(S): Lee-ML; Chiu-IS; Wu-MH; Wang-JK; Lue-HC; Chaou-WT; Tsao-LY
ADDRESS OF AUTHOR: Department of Pediatrics, Changhua Christian Hospital, Taiwan.
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Cardiol. 1998 Nov 30; 67(1): 1-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0167-5273
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: We describe two neonates with anatomically corrected malposition of the great arteries (ACM). A 1-day-old female newborn, who had the salient clinical findings of Goldenhar syndrome, behaved like a patient with the tetralogy of Fallot. The cardiac malformations included ACM, perimembranous inlet and outlet ventricular septal defect with tricuspid valve straddling, conoventricular septal malaligement, bilateral cori without aortic-mitral continuity, pulmonary stenosis at subvalvular, valvular, and supravalvular levels, and bicuspid semilunar valves. After the procedure of left Blalock-Taussig shunt at 3 months of age, cyanosis was alleviated. The other 1-month-old male newborn, who presented with prolonged feeding, tachypnea and tachycardia, likened to a patient with the hypoplastic left heart syndrome. He had a combination of ACM, mitral stenosis, hypoplastic left atrium and left ventricle, a restrictive patent foramen ovale, ventricular septal defect, subaortic conus without aortic-mitral continuity, subaortic stenosis, and a narrow ascending aortic root. Rashkind balloon atrioseptostomy was done with limited success. He survived a Norwood procedure. Transarterial entry of the catheter, which was inverted with the aid of balloon floating maneuver, to hook the retro-aortic pulmonary artery in ACM is recommended.
MINOR MESH HEADINGS: Angiography-; Echocardiography-; Goldenhar-Syndrome-complications; Heart-radiography; Heart-Catheterization-instrumentation; Heart-Defects,-Congenital-complications; Infant,-Newborn; Transposition-of-Great-Vessels-complications
MAJOR MeSH HEADINGS: *Heart-Catheterization-methods; *Pulmonary-Artery; *Transposition-of-Great-Vessels-diagnosis
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99094804
UPDATE CODE: 199905
Record 27 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Goldenhar's syndrome: a case report]
ORIGINAL TITLE: Sindrome de Goldenhar. A proposito de un caso.
AUTHOR(S): Altamar-Rios-J
ADDRESS OF AUTHOR: Servicio de O.R.L. Hospital Departamental, Villavicencio, Colombia.
SOURCE (BIBLIOGRAPHIC CITATION): An-Otorrinolaringol-Ibero-Am. 1998; 25(5): 491-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0303-8874
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: A 13-mont-old infant bearer of a Goldenhar's syndrome with bilateral aplasia of pinnae, external auditory canals, mastoid processus, glenoid fossaes, condiloid processus, right micro-ophtalmy with micro-cornea and iris coloboma, death from bronchopneumonia, is reported. The AA. suggest as aetiological cause the triphasic conjugation of malnutrition, tobacco addiction and weed-killers, extensively employed in fieldwork. All three causes producing free radicals, which are known for its tera-togeneticy, that break the H bounds of DNA of germinative cells and consequently originating errors of blastogenesis with the corresponding congenital malformations.
MINOR MESH HEADINGS: Cephalosporins-therapeutic-use; English-Abstract; Goldenhar-Syndrome-therapy; Hydrotherapy-methods; Infant-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-diagnosis
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Cephalosporins
MEDLINE ACCESSION NUMBER: 99025018
UPDATE CODE: 199904
Record 28 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar syndrome associated with various cardiovascular malformations.
AUTHOR(S): Nakajima-H; Goto-G; Tanaka-N; Ashiya-H; Ibukiyama-C
ADDRESS OF AUTHOR: Second Department of Internal Medicine, Tokyo Medical College Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-Circ-J. 1998 Aug; 62(8): 617-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0047-1828
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: AUSTRALIA
ABSTRACT: This report presents a 54-year-old woman with Goldenhar syndrome featuring an epibulbar dermoid, left microtia and a left preauricular appendage, and synostosis of the vertebrae. Multiple cardiovascular malformations including Wolff-Parkinson-White syndrome, a partial anomalous pulmonary venous connection, patent ductus arteriosus, an anomalous origin of the coronary arteries, and a right-sided descending aorta were revealed by electrocardiography, echocardiography and cardiac catheterization. Goldenhar syndrome is very rare, but the frequency of cardiovascular malformations in this syndrome is 5-58%. It is necessary to perform a careful evaluation of general malformations, especially cardiovascular malformations.
MINOR MESH HEADINGS: Cardiovascular-Abnormalities-radiography; Middle-Age
MAJOR MeSH HEADINGS: *Cardiovascular-Abnormalities-physiopathology; *Goldenhar-Syndrome-physiopathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98412772
UPDATE CODE: 199903
Record 29 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar syndrome with situs inversus totalis [letter]
AUTHOR(S): Gorgu-M; Aslan-G; Erdooan-B; Karaca-C; Akoz-T
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Oral-Maxillofac-Surg. 1998 Oct; 27(5): 404
INTERNATIONAL STANDARD SERIAL NUMBER: 0901-5027
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
MINOR MESH HEADINGS: Infant-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Situs-Inversus-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 99019353
UPDATE CODE: 199903
SUBSET: DENTAL
Record 30 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Effect of early orthopedic intervention on hemifacial microsomia patients: an approach to a cooperative evaluation of treatment results.
AUTHOR(S): Kahl-Nieke-B; Fischbach-R
ADDRESS OF AUTHOR: Department of Orthodontics, University of Hamburg, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Orthod-Dentofacial-Orthop. 1998 Nov; 114(5): 538-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0889-5406
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The purpose of the present study was to analyze the effects of early orthopedic intervention in patients with hemifacial microsomia, clinically as well as radiologically, by computed tomographic examination to assess soft and hard tissue temporomandibular joint changes. Five patients, one with mandibular dysostosis, one with otomandibular dysostosis, two with Goldenhar syndrome, and one with a surgically revised fibroma of the right mandible that was reconstructed by a costochondral graft, were treated by means of an activator functional appliance. During functional appliance treatment, all patients showed improvement of function and occlusion, and facial asymmetry was reduced. Spiral computed tomographic examination before and during treatment provided data on the bony and muscular deficiencies. The volume and density of the lateral pterygoid muscle was measured with the standard computed tomography software. Evaluation of soft and hard tissue conditions before treatment has shown that the most important factor "lack of soft tissues" can be compensated by excellent cooperation during functional therapy. Pretreatment volume of the affected lateral pterygoid muscle in all patients was significantly smaller than on the unaffected side. In three patients, volume measurements between 4 and 8 years demonstrated that the lateral pterygoid muscle on the affected side had a third, less than a third, and a fifth of the volume of the unaffected side. Although increase, stability, and decrease of the ratio of left and right condylar dimension, muscular volume, and density were found, long-term prognosis cannot be given in the cases with extreme muscular deficiencies after cessation of growth. Prepubertal orthopedic treatment success is a desirable and feasible presurgical or nonsurgical treatment goal for the interdisciplinary team approach. From a study of the pathologic, we learn much about the normal.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Dysostoses-radiography; Dysostoses-therapy; Facial-Asymmetry-radiography; Goldenhar-Syndrome-radiography; Goldenhar-Syndrome-therapy; Mandibular-Diseases-radiography; Mandibular-Diseases-therapy; Pterygoid-Muscles-radiography; Temporomandibular-Joint-radiography; Time-Factors; Tomography,-X-Ray-Computed-methods; Treatment-Outcome
MAJOR MeSH HEADINGS: *Facial-Asymmetry-therapy; *Orthodontics,-Corrective
CHECKTAGS: Comparative-Study; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99027628
UPDATE CODE: 199902
SUBSET: DENTAL
Record 31 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Airway management in children with major craniofacial anomalies.
AUTHOR(S): Sculerati-N; Gottlieb-MD; Zimbler-MS; Chibbaro-PD; McCarthy-JG
ADDRESS OF AUTHOR: Department of Otolaryngology, New York University School of Medicine, New York, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Laryngoscope. 1998 Dec; 108(12): 1806-12
INTERNATIONAL STANDARD SERIAL NUMBER: 0023-852X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVES: Delineation of clinical characteristics affecting the airway in a cohort of craniofacially deformed children. What factors differ between patients requiring and those not requiring surgical airway intervention? What factors predispose to the need for tracheotomy? When can decannulation be expected if tracheotomy is required? What interventions aid decannulation? STUDY DESIGN: Five-year retrospective chart review at tertiary center. METHODS: Two hundred fifty-one patients met the following entry criteria: enrollment in the New York University Institute of Reconstructive and Plastic Surgery's Craniofacial Clinic and admission to Tisch Hospital in Manhattan for surgery from 1990 to 1994. Hospital, clinic, and departmental office records were reviewed. All patients had major craniofacial bony anomalies and underwent administration of general anesthesia at least once. RESULTS: Nearly 20% of all children required tracheotomy (47/251). Craniofacial synostosis patients (Crouzon, Pfeiffer, or Apert syndrome) had the highest rate of tracheotomy (48% [28/59]). Mandibulofacial dysostoses patients (Treacher Collins or Nager syndrome) had the next highest rate (41% [28/59]). Patients with oculo-auriculo-vertebral sequence were less likely to undergo tracheotomy (22% [9/41]). Children with craniosynostosis rarely required a surgical airway, unless there was marked associated facial dysmorphism (1% [1/72]). The duration of cannulation was related to the age at tracheotomy in a bimodal distribution. Generally, tracheotomies required before age 4 years remained for several years, whereas those placed after age 4 were removed after several weeks. The presence of a cleft palate correlated with reduced risk for tracheotomy, but the presence of a ventriculoperitoneal shunt correlated with an increased risk for tracheotomy. Procedures selectively used to improve the airway included midface advancement, mandibular expansion, tonsillectomy and adenoidectomy, uvulopalatopharyngoplasty, anterior tongue reduction, and endoscopic tracheal granuloma excision. CONCLUSIONS: The likelihood for surgical airway management is related to specific craniofacial diagnosis. The length of tracheal cannulation is greatest for infants and young children who manifest severe airway compromise, often because of nasal obstruction in combination with other anatomic factors. Early tracheotomy is advocated for these patients to promote optimal growth and development. Choanal atresia is often misdiagnosed in these infants; nasal obstruction is actually secondary to midface retrusion. Staged surgical interventions can allow eventual successful decannulation in nearly all cases of craniofacial syndromes.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Craniofacial-Dysostosis-complications; Craniofacial-Dysostosis-surgery; Goldenhar-Syndrome-complications; Goldenhar-Syndrome-surgery; Infant-; Infant,-Newborn; Mandibulofacial-Dysostosis-complications; Mandibulofacial-Dysostosis-surgery; Retrospective-Studies; Sleep-Apnea-Syndromes-complications
MAJOR MeSH HEADINGS: *Airway-Obstruction-etiology; *Airway-Obstruction-surgery; *Craniofacial-Abnormalities-complications; *Tracheotomy-
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99066820
UPDATE CODE: 199902
Record 32 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Late gestational vascular disruptions inducing craniofacial anomalies: a fetal lamb model.
AUTHOR(S): Escobar-LF; Liechty-EA
ADDRESS OF AUTHOR: Department of Pediatrics, Indiana University, School of Medicine, Indianapolis, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Craniofac-Genet-Dev-Biol. 1998 Jul-Sep; 18(3): 159-63
INTERNATIONAL STANDARD SERIAL NUMBER: 0270-4145
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: We report our preliminary observations in six fetal lambs that were surgically manipulated in utero to impede the blood flow of the carotid arteries and their branches, including the laryngeal artery, the anastomotic branch between the vertebral artery and the occipital artery, the auricularis and the transverse facial arteries. Between 115 and 117 days of gestation (term pregnancy 147 days), all ewes were placed under general anesthesia and mechanical ventilation. Their fetuses were exteriorized and catheters were placed in their femoral artery for blood gas sampling. A balloon occluder and a blood flow probe were placed on one internal carotid while the contralateral side was completely ligated. On the third day post surgery, the balloon occluder was inflated three times for 30 minutes each time at 30 minute intervals in the experimental fetuses. PO2, PCO2, pH, lactate and glucose were monitored during the study. At 7 days post occlusion, all animals were sacrificed and tissues were collected. Craniofacial anomalies were obvious in three animals similar to those seen in hemifacial microsomia, Goldenhar syndrome and Pierre-Robin sequence. All three control animals had normal craniofacial structures. This preliminary data suggests that late gestation vascular disruptions may lead to significant craniofacial anomalies, as seen in our animal model.
MINOR MESH HEADINGS: Carotid-Arteries-embryology; Carotid-Arteries-surgery; Fetal-Diseases; Ischemia-; Ligation-; Pregnancy-; Sheep-embryology
MAJOR MeSH HEADINGS: *Craniofacial-Abnormalities-etiology; *Facial-Bones-blood-supply; *Facial-Bones-embryology; *Gestational-Age; *Skull-blood-supply; *Skull-embryology
CHECKTAGS: Animal; Female
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99001399
UPDATE CODE: 199902
Record 33 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A family with dominant oculoauriculovertebral spectrum.
AUTHOR(S): Stoll-C; Viville-B; Treisser-A; Gasser-B
ADDRESS OF AUTHOR: Service de Genetique Medicale, Centre Hospitalo-Universitaire, Strasbourg, France.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Jul 24; 78(4): 345-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.
MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-embryology; Cleft-Lip-embryology; Cleft-Lip-genetics; Cleft-Palate-embryology; Cleft-Palate-genetics; Diabetes,-Gestational-diet-therapy; Gestational-Age; Goldenhar-Syndrome-diagnosis; Infant,-Newborn; Nuclear-Family; Pedigree-; Pregnancy-; Spine-abnormalities; Spine-embryology; Syndrome-; X-Chromosome-genetics
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Genes,-Dominant; *Goldenhar-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98378239
UPDATE CODE: 199812
Record 34 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Electrocardiographic artefact with SSEP monitoring unit during scoliosis surgery.
AUTHOR(S): Choudhry-DK; Stayer-SA; Rehman-MA; Schwartz-RE
ADDRESS OF AUTHOR: St. Christopher's Hospital for Children, Department of Anesthesia and Critical Care, Philadelphia, PA 19134-1095, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Paediatr-Anaesth. 1998; 8(4): 341-3
INTERNATIONAL STANDARD SERIAL NUMBER: 1155-5645
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: A case of somatosensory evoked potential (SSEP) induced electrocardiographic artefact simulating supraventricular tachycardia (SVT) is described in a three year old girl with Goldenhar syndrome, during anterior thoracoscopic discectomy with posterior spinal fusion for scoliosis. Adenosine was administered for this misinterpreted EKG with coincidental cessation of SVT like trace.
MINOR MESH HEADINGS: Child,-Preschool; Diskectomy-; Spinal-Fusion; Tachycardia,-Supraventricular-diagnosis
MAJOR MeSH HEADINGS: *Artifacts-; *Electrocardiography-; *Evoked-Potentials,-Somatosensory; *Monitoring,-Intraoperative; *Scoliosis-surgery
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98336805
UPDATE CODE: 199812
Record 35 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Evaluation of pharyngeal and laryngeal structure and function in patients with oculo-auriculo-vertebral spectrum.
AUTHOR(S): D'Antonio-LL; Rice-RD Jr; Fink-SC
ADDRESS OF AUTHOR: Department of Surgery, Loma Linda University School of Medicine, California, USA. dantonio@llu.edu
SOURCE (BIBLIOGRAPHIC CITATION): Cleft-Palate-Craniofac-J. 1998 Jul; 35(4): 333-41
INTERNATIONAL STANDARD SERIAL NUMBER: 1055-6656
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: This study described the occurrence and expression of pharyngeal and laryngeal anomalies in a population of patients with oculo-auriculo-vertebral spectrum (OAVS). DESIGN: Cross-sectional study using chart review, physical examination, and endoscopic evaluation of the pharynx and larynx, and perceptual and aerodynamic evaluation of speech for assessment of vocal tract function. SETTING: Academic tertiary referral center. PATIENTS: Chart review of 41 patients with a diagnosis of OAVS and clinical evaluation of 23 of the patients identified in the initial chart review, ranging in age from 9 months to 17 years. MAIN OUTCOME MEASURES: Data from chart review pertaining to airway and speech symptoms. Physical examination and endoscopic studies of pharyngeal and laryngeal structure and function and perceptual and aerodynamic evaluation of speech, resonance, and voice. RESULTS: Chart review showed a high occurrence of indicators of pharyngeal and laryngeal abnormalities such as velopharyngeal inadequacy and airway obstruction. Clinical evaluations documented a variety of abnormalities in pharyngeal and laryngeal structure and function as well as impairment in speech articulation, resonance, and voice. Presence and severity of pharyngeal and laryngeal abnormalities were not correlated with the severity of expression of the spectrum based on mandibular morphology. CONCLUSIONS: Oculo-auriculo-vertebral spectrum appears to be associated with a high occurrence of structural and functional abnormalities of the pharynx and larynx that may contribute to increased risk of airway obstruction, communication impairment, and morbidity.
MINOR MESH HEADINGS: Adolescence-; Airway-Obstruction-etiology; Child-; Child,-Preschool; Cross-Sectional-Studies; Endoscopy-; Evaluation-Studies; Infant-; Laryngoscopy-; Larynx-pathology; Larynx-physiopathology; Mandible-abnormalities; Mandible-pathology; Pharynx-pathology; Pharynx-physiopathology; Physical-Examination; Retrospective-Studies; Speech-physiology; Speech-Disorders-etiology; Velopharyngeal-Insufficiency-etiology; Vocal-Cords-physiopathology; Voice-physiology; Voice-Quality-physiology
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-pathology; *Larynx-abnormalities; *Pharynx-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98347914
UPDATE CODE: 199812
SUBSET: DENTAL
Record 36 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly.
AUTHOR(S): McCandless-SE; Robin-NH
ADDRESS OF AUTHOR: Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Jul 7; 78(3): 282-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Oculocerebrocutaneous syndrome (OCCS), or Delleman syndrome, is a multiple congenital anomaly syndrome characterized by orbital cysts, cerebral malformations, and focal dermal hypoplasia [Delleman and Oorthuys, 1981, Clin Genet 19:191-198; Delleman et al., 1984, Clin Genet 25:470-472]. Two previous reports presented children having what is suggested as the more severe form of the OCCS syndrome who also had anophthalmia, congenital hydrocephalus, and cleft lip and palate [Leichtman et al., 1994, Am J Med Genet 50:39-41; Angle and Hersh, 1997, Am J Med Genet 68:39-42]. We report on a third case of severe OCCS, an infant girl with a similar constellation of findings and additional anomalies including lateral facial cleft, vertebral anomaly, and ventricular septal defect. The additional findings in our patient highlight the phenotypic overlap of OCCS and the Goldenhar anomaly, an overlap previously noted by Delleman and Oorthuys [1981], and others [Al-Gazali et al., 1988, J Med Genet 25: 773-778]. We suggest that the minimal diagnostic criteria for Delleman syndrome include central nervous system cyst or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects.
MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-etiology; Alcohol-Drinking; Cleft-Lip; Cleft-Palate; Cocaine-; Diagnosis,-Differential; Fatal-Outcome; Goldenhar-Syndrome-diagnosis; Heart-Defects,-Congenital; Infant-; Phenotype-; Pregnancy-; Pregnancy-Complications; Skin-Abnormalities-diagnosis; Skull-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Brain-abnormalities; *Eye-Abnormalities; *Goldenhar-Syndrome; *Skin-Abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 50-36-2
NAME OF SUBSTANCE: Cocaine
MEDLINE ACCESSION NUMBER: 98339721
UPDATE CODE: 199811
Record 37 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Congenital ameloblastic fibroma in association with oculoauriculovertebral spectrum.
AUTHOR(S): Naidoo-LC; Stephen-LX
ADDRESS OF AUTHOR: Department of Health, MEDUNSA, Pretoria, South Africa. cnaidoo@hltrsa.pwv.gov.za
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Pediatr-Otorhinolaryngol. 1998 May 15; 43(3): 283-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0165-5876
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Although orodental anomalies have been reported to occur in patients with oculoauriculovertebral spectrum, no previous publications in the English literature have been located that describe an ameloblastic fibroma in a patient with this condition. This report presents a 15-month-old female monozygotic twin with concomitant oculoauriculovertebral spectrum and a congenital ameloblastic fibroma of the mandible. A theory linking the pathogenesis of the two conditions is also raised.
MINOR MESH HEADINGS: Diseases-in-Twins; Goldenhar-Syndrome-genetics; Infant-; Mandibular-Neoplasms-complications; Mandibular-Neoplasms-genetics; Odontogenic-Tumors-complications; Odontogenic-Tumors-genetics
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Mandibular-Neoplasms-congenital; *Odontogenic-Tumors-congenital
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98327084
UPDATE CODE: 199811
Record 38 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Four-year-old girl with Goldenhar-sequence and severe obstructive sleep apnea, symptoms, diagnosis and therapy.
AUTHOR(S): Hoch-B; Hochban-W
ADDRESS OF AUTHOR: Zentrum fur Kinderheilkunde, Klinikum der Philipps-Universitat Marburg, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Pediatr-Otorhinolaryngol. 1998 May 15; 43(3): 277-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0165-5876
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Recently sleep related breathing disorders in children have received considerable attention. Unfortunately, cardiorespiratory polygraphy is expensive and time-consuming, and up until now today only a few pediatric hospitals have complete facilities for all-night cardiorespiratory polygraphy. Nevertheless, the prevalence of sleep related breathing disorders in children is higher than has previously been thought. To show the importance of proper diagnosis of sleep related breathing disorders, we report a case of a 4-year-old girl with severe obstructive sleep apnea caused by Goldenhar-sequence (facio-auriculo-vertebral dysplasia). Despite some treatment efforts to correct the aplastic right mandible, the symptoms of obstructive sleep apnea were not immediately recognized and remained untreated. Untreated obstructive sleep apnea led to growth and mental retardation. After polygraphic confirmation of obstructive sleep apnea and appropriate interdisciplinary treatment, the 4-year-old girl made rapid advances in growth and mental development.
MINOR MESH HEADINGS: Child,-Preschool; Sleep-Apnea-Syndromes-diagnosis; Sleep-Apnea-Syndromes-therapy
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Sleep-Apnea-Syndromes-etiology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98327083
UPDATE CODE: 199811
Record 39 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Oculo-auriculo-vertebral spectrum disorder (Goldenhar "syndrome") coexisting with schizophreniform disorder [letter]
AUTHOR(S): Brieger-P; Bartel-Friedrich-S; Haring-A; Marneros-A
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurol-Neurosurg-Psychiatry. 1998 Jul; 65(1): 135-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3050
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Adult-; Delirium,-Dementia,-Amnestic,-Cognitive-Disorders-diagnosis; Goldenhar-Syndrome-diagnosis; Intelligence-; Neurologic-Examination; Neuropsychological-Tests; Psychotic-Disorders-diagnosis
MAJOR MeSH HEADINGS: *Delirium,-Dementia,-Amnestic,-Cognitive-Disorders-complications; *Goldenhar-Syndrome-complications; *Psychotic-Disorders-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 98330154
UPDATE CODE: 199809
Record 40 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Non-surgical treatment of upper airway obstruction in oculoauriculovertebral dysplasia: a case report.
AUTHOR(S): Stellzig-A; Basdra-EK; Sontheimer-D; Komposch-G
ADDRESS OF AUTHOR: Department of Orthodontics, Heidelberg University, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Orthod. 1998 Apr; 20(2): 111-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0141-5387
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A non-surgical technique for the treatment of upper airway obstruction in oculoauriculovertebral dysplasia using an intra-oral orthopaedic appliance is described, which resulted in respiratory and feeding problems being solved without side-effects. This non-invasive management might also be of major benefit in the treatment of airway obstruction associated with Pierre Robin sequence, mandibular micrognathia in other craniofacial anomalies, or obstructive sleep apnoea.
MINOR MESH HEADINGS: Airway-Obstruction-etiology; Dental-Care-for-Chronically-Ill; Goldenhar-Syndrome-complications; Infant-
MAJOR MeSH HEADINGS: *Airway-Obstruction-therapy; *Goldenhar-Syndrome; *Occlusal-Splints
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98296820
UPDATE CODE: 199809
SUBSET: DENTAL
Record 41 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Oculo-auriculo-vertebral spectrum.
AUTHOR(S): Schaefer-GB; Olney-AH; Kolodziej-P
ADDRESS OF AUTHOR: Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ear-Nose-Throat-J. 1998 Jan; 77(1): 17-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0145-5613
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Craniofacial-Abnormalities-genetics; Craniofacial-Abnormalities-therapy; Diagnosis,-Differential; Goldenhar-Syndrome-genetics; Goldenhar-Syndrome-therapy
MAJOR MeSH HEADINGS: *Craniofacial-Abnormalities-diagnosis; *Goldenhar-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98134097
UPDATE CODE: 199805
Record 42 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: review of Goldenhar complex and malformations of left-right asymmetry.
AUTHOR(S): Lin-HJ; Owens-TR; Sinow-RM; Fu-PC Jr; DeVito-A; Beall-MH; Lachman-RS
ADDRESS OF AUTHOR: Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Jan 6; 75(1): 88-94
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We observed a girl with an interrupted, left inferior vena cava with hemiazygous continuation, bilateral superior venae cavae, heart defects, and sacral agenesis. She had macrostomia and bilateral ear tags and pits, as in oculoauriculovertebral defect. Maternal diabetes was present. The combination, which we call OAV-heterotaxia complex, supports the view that some cases of oculoauriculovertebral defect may be part of a midline field defect of blastogenesis.
MINOR MESH HEADINGS: Goldenhar-Syndrome-genetics; Goldenhar-Syndrome-radiography; Heart-Defects,-Congenital-genetics; Heart-Defects,-Congenital-pathology; Heart-Defects,-Congenital-radiography; Infant,-Newborn; Pregnancy-; Vena-Cava,-Inferior-radiography; Vena-Cava,-Superior-radiography
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-pathology; *Vena-Cava,-Inferior-abnormalities; *Vena-Cava,-Superior-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 98111340
UPDATE CODE: 199805
Record 43 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Immunohistochemical demonstration of cytokeratin in human embryonic neurons arising from placodes.
AUTHOR(S): Okabe-H; Okubo-T; Adachi-H; Ishikawa-T; Ochi-Y
ADDRESS OF AUTHOR: Department of Laboratory Medicine, Shiga University of Medical Science, Otsu, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Dev. 1997 Jul; 19(5): 347-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0387-7604
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: Sensory neurons of the olfactory, trigeminal, facial, vestibulo-cochlear, glossopharyngeal and vagal nerves, and neurons migrating along the olfactory nerve to the brain have special anlagen, made up of placodes located in the epithelial layer. To investigate the characteristic phenotype of placode-derived neurons, immunohistochemical analysis of intermediate filaments was conducted on formalin-fixed human embryonic tissues. Neurons arising from placodes including luteinizing-hormone releasing hormone (LHRH) neurons migrating from the olfactory placode to the brain had immunoreactivity to antibodies specific to cytokeratin, AE1 and CAM5.2 during the embryonic stage. However, this immunoreactivity disappeared during the late embryonic to the post-embryonic stage and was not observed in the roots of these nerves in the post-natal stage. Immunoreactivity was detected in both the somata and processes, and the distribution differed from that described in rodent brain neurons. With this exception, no other human peripheral neurons, including spinal dorsal root ganglia, had immunoreactivity with anti-cytokeratin antibodies throughout the entire developmental stage. Although the cephalic neural crest also directly generates neurons to most of the cranial sensory ganglia, we could not find any evidence that it contributed to the genesis of cytokeratin-positive embryonic neurons. We concluded that cytokeratin is an intermediate filament common to human embryonic neurons of cephalic placodal origin and that this immunohistochemical marker may be useful in analyzing the developmental sequence of several congenital diseases involving the cranial nerves, such as Moebius syndrome and Goldenhar syndrome.
MINOR MESH HEADINGS: Adult-; Antibody-Specificity; Cell-Differentiation-physiology; Cranial-Nerves-chemistry; Cranial-Nerves-cytology; Cranial-Nerves-embryology; Facial-Nerve-chemistry; Facial-Nerve-cytology; Facial-Nerve-embryology; Immunohistochemistry-; Infant,-Newborn; Mesoderm-chemistry; Mesoderm-cytology; Neural-Crest-chemistry; Neural-Crest-embryology; Nodose-Ganglion-chemistry; Nodose-Ganglion-cytology; Nodose-Ganglion-embryology; Olfactory-Nerve-chemistry; Olfactory-Nerve-cytology; Olfactory-Nerve-embryology; Spinal-Cord-chemistry; Spinal-Cord-cytology; Spinal-Cord-embryology; Trigeminal-Nerve-chemistry; Trigeminal-Nerve-cytology; Trigeminal-Nerve-embryology; Vestibulocochlear-Nerve-chemistry; Vestibulocochlear-Nerve-cytology; Vestibulocochlear-Nerve-embryology
MAJOR MeSH HEADINGS: *Keratin-analysis; *Keratin-immunology; *Neural-Crest-cytology; *Neurons,-Afferent-chemistry
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 68238-35-7
NAME OF SUBSTANCE: Keratin
MEDLINE ACCESSION NUMBER: 97397449
UPDATE CODE: 199712
Record 44 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar syndrome.
AUTHOR(S): Lal-P; Agrawal-P; Krishna-A
ADDRESS OF AUTHOR: Department of Surgery, University College of Medical Sciences, New Delhi.
SOURCE (BIBLIOGRAPHIC CITATION): Indian-Pediatr. 1997 Sep; 34(9): 837-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0019-6061
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: INDIA
MINOR MESH HEADINGS: Child,-Preschool; Goldenhar-Syndrome-surgery; India-; Infant,-Newborn
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-diagnosis
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98153303
UPDATE CODE: 199805
Record 45 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar syndrome among infants born in military hospitals to Gulf War veterans.
AUTHOR(S): Araneta-MR; Moore-CA; Olney-RS; Edmonds-LD; Karcher-JA; McDonough-C; Hiliopoulos-KM; Schlangen-KM; Gray-GC
ADDRESS OF AUTHOR: Naval Health Research Center, Division of Clinical Epidemiology, San Diego, California 92186-5122, USA. araneta@nhrc.navy.mil
SOURCE (BIBLIOGRAPHIC CITATION): Teratology. 1997 Oct; 56(4): 244-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0040-3709
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Reports in the popular press described the occurrence of Goldenhar syndrome among children of Persian Gulf War veterans (GWVs). The objective of this investigation was to compare the birth prevalence of Goldenhar syndrome among infants born in military hospitals to GWVs and to military personnel who were not deployed to the Gulf War (NDVs). Computerized hospital discharge data were reviewed for infants conceived after the war and born prior to the 1st of October, 1993, in medical treatment facilities (MTFs) operated by the U.S. Department of Defense. Medical records were evaluated for infants diagnosed at birth with at least one abnormality that might be related to Goldenhar syndrome. Two pediatricians, blinded to the parental Gulf War status of each infant, reviewed records. An estimated 75,414 infants were conceived after the Gulf War and born in MTFs during the study period (34,069 GWV infants and 41,345 NDV infants). Seven infants fulfilled the case criteria (five GWV infants and two NDV infants). All infants had fathers who served in the military at the time of their conception and birth. The birth prevalence was 14.7 per 100,000 live births among GWV infants (95% confidence interval [CI]: 5.4-36.4) and 4.8 per 100,000 live births (95% CI: 0.8-19.5) among NDV infants (relative risk: 3.03; 95% CI: 0.63-20.57; P values: [2-tailed] = 0.26, [1-tailed] = 0.16). The few affected cases and the broad confidence intervals surrounding the relative risk require that these results be interpreted with caution and do not exclude chance as an explanation for these findings.
MINOR MESH HEADINGS: Adolescence-; Adult-; Environmental-Exposure; Goldenhar-Syndrome-etiology; Goldenhar-Syndrome-pathology; Infant,-Newborn; Middle-East; Pregnancy-; Prevalence-; United-States-epidemiology; Veterans-; War-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-epidemiology; *Hospitals,-Military; *Military-Personnel
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-Non-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98073324
UPDATE CODE: 199803
Record 46 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Dysphagia in children with oculo-auriculo-vertebral spectrum.
AUTHOR(S): Yokochi-K; Terasawa-S; Kono-C; Fujishima-I
ADDRESS OF AUTHOR: Department of Rehabilitation, Ohzora Hospital, Shizuoka, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Dysphagia. 1997 Fall; 12(4): 222-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0179-051X
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Feeding difficulty necessitating tube feeding after the infantile period was seen in 3 children with oculo-auriculo-vertebral spectrum. Videofluorographic imaging showed impaired pharyngeal function, which was thought to result from dysplasia of the pharyngeal muscles. Note should be made of feeding difficulty in patients with oculo-auriculo-vertebral spectrum.
MINOR MESH HEADINGS: Child,-Preschool; Fluoroscopy-methods
MAJOR MeSH HEADINGS: *Deglutition-Disorders-complications; *Deglutition-Disorders-diagnosis; *Goldenhar-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97440740
UPDATE CODE: 199802
SUBSET: DENTAL
Record 47 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Left retrocaval ureter associated with the Goldenhar syndrome (branchial arch syndrome).
AUTHOR(S): Ishitoya-S; Arai-Y; Waki-K; Okubo-K; Suzuki-Y
ADDRESS OF AUTHOR: Department of Urology and Pediatrics, Kurashiki Central Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Urol. 1997 Aug; 158(2): 572-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5347
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Infant-; Vena-Cava,-Inferior
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Ureter-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 97367661
UPDATE CODE: 199710
SUBSET: AIM
Record 48 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Oculo-auriculo-vertebral spectrum: cranial and vertebral malformations due to focal disturbed chondrogenesis.
AUTHOR(S): Goret-Nicaise-M; Baertz-G; Saussoy-P; Dhem-A
ADDRESS OF AUTHOR: Human Anatomy Research Unit, Faculty of Medicine, University of Louvain (UCL), Brussels, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): J-Craniofac-Genet-Dev-Biol. 1997 Jan-Mar; 17(1): 35-42
INTERNATIONAL STANDARD SERIAL NUMBER: 0270-4145
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Microradiographic and histological analyses point out a focal disturbed chondrogenesis of both the skull base and the axial skeleton in a case of oculo-auriculo-vertebral spectrum. Cartilage showed disturbed endochondral ossification with defects in calcification, deficient resorption, and abnormal crumpled areas of mineralized cartilage.
MINOR MESH HEADINGS: Goldenhar-Syndrome-complications; Goldenhar-Syndrome-genetics; Heart-Defects,-Congenital-complications; Heart-Defects,-Congenital-pathology; Infant,-Newborn; Inversion-Genetics; Lumbar-Vertebrae-abnormalities; Osteochondrodysplasias-genetics; Skull-Base-abnormalities
MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-pathology; *Chromosomes,-Human,-Pair-12; *Goldenhar-Syndrome-pathology; *Osteochondrodysplasias-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97354925
UPDATE CODE: 199710
Record 49 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Goldenhar complex: a further case with uncommon associated anomalies.
AUTHOR(S): Zelante-L; Gasparini-P; Scanderbeg-AC; Dimitri-L; Criconia-M; Gorlin-RJ
ADDRESS OF AUTHOR: Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Apr 14; 69(4): 418-21
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on a further case of Goldenhar complex with uncommon and clinically remarkable associated anomalies. This additional case increases the number of observations and descriptions of patients with "expanded Goldenhar complex." Pathogenetic aspects are discussed.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-pathology; Abnormalities,-Multiple-radiography; Abnormalities,-Multiple-ultrasonography; Fatal-Outcome; Goldenhar-Syndrome-genetics; Goldenhar-Syndrome-pathology; Goldenhar-Syndrome-radiography; Goldenhar-Syndrome-ultrasonography; Hand-Deformities,-Congenital; Infant-; Spine-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Goldenhar-Syndrome
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97253036
UPDATE CODE: 199709
Record 50 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Visual consequences of ocular and adnexal findings in patients with Goldenhar's syndrome.
AUTHOR(S): Hertle-RW; Nesbum-K; Katowitz-JA
ADDRESS OF AUTHOR: Division of Ophthalmology, Children's Hospital of Philadelphia, University of Pennsylvania, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Ophthalmic-Nurs-Technol. 1997 Jan-Feb; 16(1): 12-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0744-7132
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Infant-; Prognosis-; Refraction,-Ocular; Retrospective-Studies; Vision-Disorders-classification; Vision-Disorders-diagnosis
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Vision-Disorders-congenital
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97348890
UPDATE CODE: 199709
SUBSET: NURSING
Record 51 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Absence of the common crus in Goldenhar syndrome.
AUTHOR(S): Manfre-L; Genuardi-P; Tortorici-M; Lagalla-R
ADDRESS OF AUTHOR: Department of Radiology, P. Cignolini, University of Palermo, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1997 Apr; 18(4): 773-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe an unusual labyrinthine malformation in a case of Goldenhar syndrome studied with CT and steady-state MR imaging. A single posterosuperior semicircular canal was found with no common crus formation. The malformation could not be attributed to any embryologic development. Nosologic considerations are discussed.
MINOR MESH HEADINGS: Abnormalities,-Multiple; Child-; Ear-Canal-abnormalities; Ear-Ossicles-abnormalities; Goldenhar-Syndrome-radiography; Hearing-Loss,-Bilateral-diagnosis; Hearing-Loss,-Bilateral-radiography; Hearing-Loss,-Conductive-diagnosis; Hearing-Loss,-Conductive-radiography; Labyrinth-abnormalities; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed; Vestibule-abnormalities
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-diagnosis; *Semicircular-Canals-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97272338
UPDATE CODE: 199708
Record 52 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis.
AUTHOR(S): Roth-DA; Gosain-AK; McCarthy-JG; Stracher-MA; Lefton-DR; Grayson-BH
ADDRESS OF AUTHOR: Institute of Reconstructive Plastic Surgery, New York University School of Medicine, New York, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Plast-Reconstr-Surg. 1997 Apr; 99(5): 1237-47; discussion 1248-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0032-1052
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Distraction osteogenesis has become an accepted method of treatment for patients requiring reconstruction of hypoplastic mandibles. We present a quantitative analysis of volumetric changes after distraction osteogenesis in a series of 10 patients. Group I (n = 5 patients, 3 unilateral craniofacial microsomia, 1 Goldenhaar syndrome, and 1 bilateral craniofacial microsomia) underwent unilateral distraction of the mandible. Group II (n = 5 patients, 1 Nager syndrome, 1 bilateral craniofacial microsomia, 1 developmental micrognathia, and 2 Treacher Collins syndrome) underwent bilateral distraction of the mandible. Predistraction and postdistraction axial and three-dimensional computed tomographic (CT) scans were digitized and transferred to a computer for analysis with image-processing software to determine the changes in volume of the mandible and bony regenerate. The CT-derived volume method was validated by scanning three dry cadaver mandible specimens and comparing the volume data with those derived from a water-displacement method. The difference between the two methods was less than 5 percent. The mean distracted length, as recorded from the calibrated device, was 22.6 mm in the 10 patients. In the unilateral distraction group, the mean increase in hemimandibular bone volume was 2.8 cc, with a mean percentage increase of 27 percent in the distracted hemimandible. In the bilaterally distracted patients, the mean increase in total mandibular volume was 7.9 cc, with a mean percentage increase in bone volume of 25 percent. This study represents the first attempt to quantify the increase in bone volume resulting from distraction osteogenesis. Quantitative volumetric analysis of CT scans is an accurate method to measure the amount of bone regenerate in patients undergoing distraction osteogenesis of the mandible or the extremities. The concept and utility of quantifying the volumetric changes in bone following distraction osteogenesis may become more important as multiplanar devices are developed and used in other areas of the craniofacial skeleton.
MINOR MESH HEADINGS: Adolescence-; Adult-; Bone-Regeneration; Cadaver-; Child-; Child,-Preschool; Facial-Asymmetry-surgery; Goldenhar-Syndrome-surgery; Image-Processing,-Computer-Assisted; Mandible-abnormalities; Mandible-pathology; Mandible-surgery; Mandibulofacial-Dysostosis-surgery; Micrognathism-surgery; Radiographic-Image-Enhancement; Reproducibility-of-Results; Syndrome-; Water-
MAJOR MeSH HEADINGS: *Bone-Lengthening-methods; *Mandible-radiography; *Osteogenesis-; *Tomography,-X-Ray-Computed
CHECKTAGS: Comparative-Study; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 7732-18-5
NAME OF SUBSTANCE: Water
MEDLINE ACCESSION NUMBER: 97259230
UPDATE CODE: 199707
SUBSET: AIM
Record 53 of 99 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Airway management in children with craniofacial anomalies.
AUTHOR(S): Perkins-JA; Sie-KC; Milczuk-H; Richardson-MA
ADDRESS OF AUTHOR: Medical Corps, Otolaryngology-Head and Neck Surgery Service, Madigan Army Medical Center, Tacoma, Washington, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Cleft-Palate-Craniofac-J. 1997 Mar; 34(2): 135-40
INTERNATIONAL STANDARD SERIAL NUMBER: 1055-6656
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Craniofacial anomalies (CFA) predispose children to airway obstruction. A retrospective study was conducted to describe airway intervention required to manage patients with craniofacial syndromes and diseases involving the midface and mandible (i.e., Pierre Robin, Apert, Treacher Collins, Saethre-Chotzen, CHARGE, Nager, Stickler, Goldenhar, and Pfeiffer). The type of airway intervention, duration of intervention, and associated physical and medical conditions were evaluated. One hundred nine patients had charts available for review and met inclusion criteria. Sixty-five of these patients required airway management, most commonly in the first month of life, ranging from positioning to tracheotomy. Nineteen patients required a tracheotomy. Associated medical conditions and feeding difficulties were associated with airway obstruction. This study evaluates factors that predispose children with CFA to have airway problems that need treatment, as well as the types of airway management that are necessary.
MINOR MESH HEADINGS: Acrocephalosyndactylia-complications; Airway-Obstruction-etiology; Airway-Obstruction-prevention-and-control; Child-; Child,-Preschool; Choanal-Atresia-surgery; Eating-Disorders-etiology; Goldenhar-Syndrome-complications; Infant-; Infant,-Newborn; Intubation,-Intratracheal; Mandible-abnormalities; Mandibulofacial-Dysostosis-complications; Maxilla-abnormalities; Pierre-Robin-Syndrome-complications; Posture-; Retrospective-Studies; Risk-Factors; Sleep-Apnea-Syndromes-etiology; Time-Factors; Tracheotomy-
MAJOR MeSH HEADINGS: *Airway-Obstruction-therapy; *Face-abnormalities; *Respiration-; *Skull-abnormalities
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97227182
UPDATE CODE: 199707
SUBSET: DENTAL
Record 54 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Sleep apnea associated with congenital diseases and moderate hypertrophy of tonsils.
AUTHOR(S): Suzuki-K; Yamamoto-S; Ito-Y; Baba-S
ADDRESS OF AUTHOR: Department of Otorhinolaryngology, Nagoya City University Medical School, Nagoya, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Otolaryngol-Suppl. 1996; 523: 225-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0365-5237
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NORWAY
ABSTRACT: In this paper, we studied 3 children with moderate hypertrophy of the palatine tonsils and adenoids and serious congenital diseases. The first patient was a 4-year-old girl with Fallot's tetralogy, the second was a 6-year-old girl with Goldenhar syndrome and ventricular septal defect, aortic stenosis and patent ductus arteriosus, and the third was a 3-year-old boy with cerebral palsy and epilepsy. We examined obstructive apnea during sleep in these patients using all-night polysomnogram or apnomonitor before surgical therapy. After tonsillectomy or adeno-tonsillectomy we confirmed significant improvement of clinical symptoms and obstructive sleep apnea in these patients by all-night polysomnograms or apnomonitor.
MINOR MESH HEADINGS: Adenoids-surgery; Child-; Child,-Preschool; Sleep-Apnea-Syndromes-surgery; Sleep-Stages; Sleep,-REM; Tonsil-surgery
MAJOR MeSH HEADINGS: *Adenoids-physiopathology; *Sleep-Apnea-Syndromes-complications; *Tetralogy-of-Fallot-complications; *Tonsil-physiopathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97111109
UPDATE CODE: 199706
Record 55 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Oculoauriculovertebral syndrome (Goldenhar syndrome)]
AUTHOR(S): Matsuo-K
ADDRESS OF AUTHOR: Department of Pediatrics, Sanyo Central Hospital.
SOURCE (BIBLIOGRAPHIC CITATION): Ryoikibetsu-Shokogun-Shirizu. 1996(15): 287-8
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
MINOR MESH HEADINGS: Infant-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97200081
UPDATE CODE: 199706
Record 56 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome.
AUTHOR(S): De-Catte-L; Laubach-M; Legein-J; Goossens-A
ADDRESS OF AUTHOR: Department of Obstetrics and Prenatal Diagnosis, University Hospital, Free University Brussels, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): Ultrasound-Obstet-Gynecol. 1996 Dec; 8(6): 422-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0960-7692
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We report a case of the sonographic detection of oculoauriculovertebral dysplasia in a fetus at 15 weeks' gestation. An early diagnosis was suggested by observation of a maxillar cleft in association with unilateral microphthalmia. In the presence of microphthalmia the syndrome is likely to include mental retardation. When the diagnosis is made in the perinatal period, management generally involves cosmetic surgery. If, however, the condition is recognized in the early stages of gestation, termination of pregnancy may be an option.
MINOR MESH HEADINGS: Adult-; Gestational-Age; Goldenhar-Syndrome-pathology; Goldenhar-Syndrome-radiography; Pregnancy-; Pregnancy-Outcome; Pregnancy-Trimester,-Second
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-ultrasonography; *Ultrasonography,-Prenatal
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97166564
UPDATE CODE: 199706
Record 57 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Report of a new case of axial mesodermal dysplasia complex.
AUTHOR(S): Bini-R; Danti-DA; Materassi-M; Pela-I
ADDRESS OF AUTHOR: Department of Pediatrics, University of Florence, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1996 Nov; 50(5): 407-10
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: We present a female child with phenotypical and clinical features of the axial mesodermal dysplasia complex. Typical manifestations of both the Goldenhar syndrome and the caudal regression syndrome are present in this complex. Only a few reports have described patients with this pattern of malformations localized in both the cranial and caudal regions. Our case represents a mild form of the complex and may contribute to a better delineation of this condition.
MINOR MESH HEADINGS: Goldenhar-Syndrome-pathology; Infant-; Nuclear-Magnetic-Resonance; Skull-abnormalities; Spine-radiography; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Bone-Diseases,-Developmental-pathology; *Mesoderm-; *Spine-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97159817
UPDATE CODE: 199705
Record 58 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Facio-auriculo-vertebral syndrome or oculo-auriculo-vertebral dysplasia (Goldenhar): report of 2 clinical cases]
ORIGINAL TITLE: Sindrome facio-auricolo-vertebrale o displasia oculo-auricolo-vertebrale (Goldenhar): descrizione di due casi clinici.
AUTHOR(S): Conforto-F; Conte-S; Branchi-M; Bonora-G
ADDRESS OF AUTHOR: Divisione di Pediatria, Ospedale di Sondrio, Italia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Med-Chir. 1996 Jul-Aug; 18(4): 411-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0391-5387
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: We describe two cases of oculo-auricolo-vertebral dysplasia (OAV). The OAV spectrum is markedly broad and in some instances could results in diagnostic problems. One of our cases is classic Goldenhar syndrome. The other is a subgroup with microtia and mandibular hypoplasia. In the OAV the possibility of hearing impairment requires early recognition.
MINOR MESH HEADINGS: English-Abstract; Goldenhar-Syndrome-diagnosis; Infant,-Newborn
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97121932
UPDATE CODE: 199705
Record 59 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: The Birmingham bone anchored hearing aid programme: paediatric experience and results.
AUTHOR(S): Powell-RH; Burrell-SP; Cooper-HR; Proops-DW
ADDRESS OF AUTHOR: Department of Audiology, Queen Elizabeth Hospital, University Hospital Birmingham NHS Trust, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Laryngol-Otol-Suppl. 1996; 21: 21-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0144-2945
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Over a five-year period, 34 patients have been referred to the Birmingham bone anchored hearing aid programme, paediatric section, of who 21 are now wearing the bone anchored hearing aid (BAHA) and four are awaiting surgery for fitting of the BAHA. Of the patients assessed, found to be suitable and who proceeded to surgery for the BAHA, 44 per cent had Treacher Collins syndrome, 28 per cent had bilateral atresia or microtia, 16 per cent had Goldenhaar's syndrome, four per cent (one patient) had branchio-otorenal syndrome and eight per cent had chronic suppurative otitis media. This paper presents objective and subjective data collected from these patients. It is shown that the BAHA is a very effective hearing aid for children with congenital hearing loss.
MINOR MESH HEADINGS: Adolescence-; Branchio-Oto-Renal-Syndrome-rehabilitation; Branchio-Oto-Renal-Syndrome-surgery; Child-; Child,-Preschool; Ear,-Middle-abnormalities; England-; Goldenhar-Syndrome-rehabilitation; Goldenhar-Syndrome-surgery; Hearing-Disorders-rehabilitation; Hearing-Loss,-Conductive-rehabilitation; Hearing-Loss,-Conductive-surgery; Mandibulofacial-Dysostosis-rehabilitation; Mandibulofacial-Dysostosis-surgery; Otitis-Media,-Suppurative-rehabilitation; Otitis-Media,-Suppurative-surgery; Treatment-Outcome
MAJOR MeSH HEADINGS: *Hearing-Aids; *Hearing-Disorders-surgery; *Osseointegration-; *Temporal-Bone-surgery
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97167828
UPDATE CODE: 199704
Record 60 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.
AUTHOR(S): Casey-HD; Braddock-SR; Haskins-RC; Carey-JC; Morales-L Jr
ADDRESS OF AUTHOR: University of Utah School of Medicine, Salt Lake City, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Cleft-Palate-Craniofac-J. 1996 Nov; 33(6): 519-23
INTERNATIONAL STANDARD SERIAL NUMBER: 1055-6656
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.
MINOR MESH HEADINGS: Adolescence-; Child,-Preschool; Frontal-Bone-abnormalities; Goldenhar-Syndrome-classification; Syndrome-
MAJOR MeSH HEADINGS: *Craniofacial-Abnormalities-classification; *Craniofacial-Abnormalities-pathology; *Ear,-External-abnormalities; *Eyelids-abnormalities; *Facial-Asymmetry-pathology; *Nose-abnormalities
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 97093917
UPDATE CODE: 199704
SUBSET: DENTAL
Record 61 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Familial occurrence of oculoauricolovertebral dysplasia and Franceschetti syndrome]
ORIGINAL TITLE: Familiare Haufung von okuloaurikulovertebraler Dysplasie und Franceschetti-Syndrom.
AUTHOR(S): Bestelmeyer-U; Weerda-H; Siegert-R; Greiwe-M; Schwinger-E
ADDRESS OF AUTHOR: Institut fur Humangenetik, Medizinischen Universitat zu Lubeck.
SOURCE (BIBLIOGRAPHIC CITATION): HNO. 1996 Aug; 44(8): 452-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0017-6192
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Oculoauriculovertebral dysplasia (OAV) and the Franceschetti syndrome (FS) are well-known complexes of anomalies that have dysplasias of the external ear as a common occurrence. In this study the specific patterns of symptoms and familial occurrences of 100 patients with external ear dysplasias were examined (88 patients with OAV dysplasia and 12 patients with FS). Analyzing the pedigree data of the probands, we ascertained the relatives with striking symptoms and associated anomalies of OAV dysplasia. The aim of this study was to determine the influence of genetic transmission on OAV dysplasia in comparison to FS. A striking family history was found in 66.6% of the patients with FS. In 26.1%, family members of patients with OAV dysplasia had external ear dysplasias or other striking symptoms of OAV dysplasia. In this complex of anomalies we also found a higher frequency of skeletal deformities and congenital heart defects than in the normal population. On the basis of our results we suggest that there is a genetic transmission in patients with FS as well as in some cases with OAV dysplasia. Our findings show that it is absolutely necessary to analyze family history very carefully when discussing the recurrence risk or risk of genetic transmission.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; English-Abstract; Genetic-Screening; Heterozygote-Detection; Risk-Factors
MAJOR MeSH HEADINGS: *Ear,-External-abnormalities; *Goldenhar-Syndrome-genetics
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96398161
UPDATE CODE: 199702
Record 62 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.
AUTHOR(S): Van-Meter-TD; Weaver-DD
ADDRESS OF AUTHOR: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Dysmorphol. 1996 Jul; 5(3): 187-96
INTERNATIONAL STANDARD SERIAL NUMBER: 0962-8827
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We describe two infants with features of both the oculo-auriculo-vertebral spectrum (OAVS) and the CHARGE association (CA). Both patients are more severely affected than the typical patient with the OAVS. Each has facial asymmetry, mandibular hypoplasia, ear abnormalities, hearing impairment, microphthalmia, heart defects, and developmental delay. They also have features that are not characteristic of either OAVS or CA including torticollis, plagiocephaly, and heminostril. Based on the findings of these patients and other reported in the literature, there appears to be a significant overlap of features between OAVS and CA, and we suggest that these conditions in fact may be produced by the same pathogenetic mechanism. One such mechanism to explain the overlap of these disorders is that both conditions are part of the axial mesodermal spectrum, and represent a dysblastogenetic process. This mechanism may also explain the presence of some of the additional features not normally seen in OAVs and CA but seen in these two infants.
MINOR MESH HEADINGS: Abnormalities,-Multiple-classification; Abnormalities,-Multiple-physiopathology; Diagnosis,-Differential; Follow-Up-Studies; Goldenhar-Syndrome-classification; Goldenhar-Syndrome-physiopathology; Infant-; Infant,-Newborn
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Goldenhar-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96415521
UPDATE CODE: 199702
Record 63 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Abnormalities of the spine in Goldenhar's syndrome.
AUTHOR(S): Gibson-JN; Sillence-DO; Taylor-TK
ADDRESS OF AUTHOR: Children's Hospital, Camperdown, Sydney, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Orthop. 1996 May-Jun; 16(3): 344-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0271-6798
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The vertebral abnormalities present in 35 patients diagnosed with Goldenhar's syndrome are reported. There was no absolute correlation between the presence of any of the formative or segmentation vertebral defects and that of other concomitant malformations. This study supports the conclusion that patients with various groupings of Goldenhar-related anomalies should be considered as a single entity, to which the name Goldenhar association could be applied.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Goldenhar-Syndrome-diagnosis; Prognosis-; Scoliosis-complications; Scoliosis-radiography; Scoliosis-therapy; Spinal-Diseases-radiography; Spinal-Diseases-therapy; Spinal-Fusion; Spine-radiography
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Spinal-Diseases-complications; *Spine-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96284851
UPDATE CODE: 199701
Record 64 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar syndrome with multiple additional anomalies.
AUTHOR(S): Jaison-SG; Batra-N
ADDRESS OF AUTHOR: Department of Ophthalmology, Christian Medical College & Hospital, Ludhiana, Punjab.
SOURCE (BIBLIOGRAPHIC CITATION): Indian-J-Ophthalmol. 1996 Mar; 44(1): 42-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-4738
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: INDIA
MINOR MESH HEADINGS: Goldenhar-Syndrome-diagnosis; Goldenhar-Syndrome-therapy; Infant-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-etiology; *Cryptorchidism-etiology; *Ear-abnormalities; *Eye-Abnormalities-etiology; *Goldenhar-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96425998
UPDATE CODE: 199701
Record 65 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Syringomyelia as a complication of Goldenhar syndrome [letter; comment]
COMMENTS: Comment on: Childs Nerv Syst 1995 Dec;11(12):708-11
AUTHOR(S): Tekkok-IH
SOURCE (BIBLIOGRAPHIC CITATION): Childs-Nerv-Syst. 1996 Jun; 12(6): 291
INTERNATIONAL STANDARD SERIAL NUMBER: 0256-7040
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
MINOR MESH HEADINGS: Adult-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Syringomyelia-etiology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 96413076
UPDATE CODE: 199701
Record 66 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Goldenhar syndrome: apropos of a case]
ORIGINAL TITLE: Syndrome de Goldenhar: a propos d'un cas.
AUTHOR(S): D'Khissy-M; El-Belhadji-M; Hamdani-M; Laraqui-NZ; Zaghloul-K; Amraoui-A; Benchakroun-Y
ADDRESS OF AUTHOR: Service d'Ophtalmologie, Hopital 20 Aout, Casablanca, Maroc.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Laryngol-Otol-Rhinol-Bord. 1996; 117(1): 61-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0035-1334
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: We report a case of Goldenhar syndrom in thirty eight old woman who has been refered to us for peribulbar choristoma. The authors discuss the different ophthalmological, otolaryngological and general manifestation of this syndrom and the therapeutic modalities of the ocular anomalies.
MINOR MESH HEADINGS: Adult-; English-Abstract
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 96319006
UPDATE CODE: 199612
Record 67 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar, Mobius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?
AUTHOR(S): Preis-S; Majewski-F; Hantschmann-R; Schumacher-H; Lenard-HG
ADDRESS OF AUTHOR: Universitatskinderklinik, Dusseldorf, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1996 May; 155(5): 385-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The Mobius, Goldenhar and hypoglossia-hypodactyly anomalies are usually sporadic conditions with a recurrence risk of about 2%. The combination of Goldenhar and one or the two others is rare, whereas the concomitant occurrence of Mobius and hypoglossia-hypodactyly, and/or Poland, and/or Klippel-Feil anomaly is well known. Pathogenetically, vascular disruptions around the 4th embryonic week have been hypothesized. In vivo and pathological studies as well as animal models support this theory for all the above-mentioned combinations. Whether a preceding blastogenetic alteration is an influencing factor or a disorganization mutation, remains unclear. We describe a 3-year-old girl with bilateral anotia, epidermoid on the right eye, 6th and 7th nerve palsy, hypoglossia, left hypodactyly, and ventricular septal defect. CONCLUSION: We wish to emphasize the aetiological relevance of vascular disruptions in this previously unreported combination of Mobius, Goldenhar and hypoglossia-hypodactyly anomalies. The concurrence of anomalies in this patient represents an association and not a pleiotropic syndrome.
MINOR MESH HEADINGS: Child,-Preschool; Cranial-Nerve-Diseases-complications; Goldenhar-Syndrome-complications; Syndrome-
MAJOR MeSH HEADINGS: *Abducens-Nerve; *Abnormalities,-Multiple; *Facial-Nerve; *Fingers-abnormalities; *Goldenhar-Syndrome; *Tongue-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96302961
UPDATE CODE: 199612
Record 68 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [The use of 3-dimensional models in craniofacial surgery]
ORIGINAL TITLE: Het gebruik van driedimensionale modellen in de craniofaciale chirurgie.
AUTHOR(S): Wittkampf-AR; Zonneveld-FW
ADDRESS OF AUTHOR: Afd. Mond-, Kaak- en Aangezichtschirurgie, Academisch Ziekenhuis, Utrecht.
SOURCE (BIBLIOGRAPHIC CITATION): Ned-Tijdschr-Geneeskd. 1996 Jun 29; 140(26): 1353-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-2162
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: DUTCH; NON-ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: With the aid of axial CT scanning a polyurethane or resin copy of bony tissue of the craniofacial region of interest can be manufactured. 3-dimensional models are used in planning of osteotomies of the midface and forehead, where complex bone transpositions are to be performed, and in manufacturing complex implants. Different preoperative steps in several patients are demonstrated and the postoperative results are shown. Patient A was a 9-year-old girl who had radiotherapy as a baby for retinoblastoma which destroyed a large part of her face. In patient B, a 46-year-old woman, the whole zygomatic bone and three-quarters of the floor of the orbit were among other things resected for a low-grade osteosarcoma. Patient C had Goldenhar's syndrome (oculoauriculovertebral dysplasia). In all 3 patients reconstructive surgery was prepared with 3-dimensional cut models.
MINOR MESH HEADINGS: Adult-; Child-; Computer-Simulation; English-Abstract; Facial-Asymmetry-etiology; Facial-Bones-surgery; Facial-Neoplasms-complications; Facial-Neoplasms-surgery; Middle-Age; Surgery,-Plastic-methods
MAJOR MeSH HEADINGS: *Facial-Asymmetry-surgery; *Models,-Anatomic
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96288986
UPDATE CODE: 199611
Record 69 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.
AUTHOR(S): Johnson-JP; Poskanzer-LS; Sherman-S
ADDRESS OF AUTHOR: Shodair Children's Hospital, Helena, Montana 59604-5539, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Jan 11; 61(2): 134-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The Townes-Brocks syndrome (TBS) is comprised of a triad including characteristic anal, thumb, and ear anomalies. There are many other organ system abnormalities which may be present. However, the literature does not emphasize craniofacial findings except with reference to the typical ear configuration. A three-generation family is described in which craniofacial manifestations were prominent and a Goldenhar-like condition was considered as the most likely diagnosis. However, with the recent birth of an affected male who had an imperforate anus, the diagnosis of TBS was also considered. The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS. We report on this family to point out a possible biological relationship of these two conditions.
MINOR MESH HEADINGS: Adult-; Anus-abnormalities; Child-; Dermoid-Cyst; Ear-abnormalities; Facial-Asymmetry; Facial-Bones-abnormalities; Infant-; Infant,-Newborn; Middle-Age; Pedigree-; Syndrome-; Thumb-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Goldenhar-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96264114
UPDATE CODE: 199610
Record 70 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Vertical orbital dystopia.
AUTHOR(S): Tan-ST; Ashworth-G; Czypionka-S; Poole-MD; Briggs-M
ADDRESS OF AUTHOR: Oxford Craniofacial Unit, Radcliffe Infirmary, England.
SOURCE (BIBLIOGRAPHIC CITATION): Plast-Reconstr-Surg. 1996 Jun; 97(7): 1349-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0032-1052
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Many pathologic processes may lead to vertical orbital dystopia. We reviewed 47 consecutive cases seen over a 13-year period. Twenty-nine patients underwent eye leveling procedures to improve cosmesis, 2 of these by camouflage procedures and 27 by orbital translocation. Ten patients had 16 secondary operations. There was one death, serious complications occurred in 3 patients, and nuisance complications occurred in 20 others. Seven patients developed diplopia postoperatively, and in 6 patients it was troublesome. In these, it resolved fully in 2 patients, improved to be of no consequence in 2, and in the remaining 2 troublesome symptoms persisted requiring inferior oblique muscle recession in 1. Binocular vision was never restored when not present preoperatively, and in 3 patients temporary loss occurred. There was an overall modest but significant improvement in appearance after surgery. It is concluded that vertical orbital translocation is rewarding and worthwhile.
MINOR MESH HEADINGS: Abnormalities,-Multiple; Adolescence-; Adult-; Child-; Child,-Preschool; Goldenhar-Syndrome-surgery; Infant-; Middle-Age; Postoperative-Complications; Surgery,-Plastic-methods; Vision-Disorders-etiology
MAJOR MeSH HEADINGS: *Craniofacial-Dysostosis-surgery; *Orbit-abnormalities; *Orbit-surgery; *Surgery,-Plastic
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96238004
UPDATE CODE: 199609
SUBSET: AIM
Record 71 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Surgical repair of d-transposition with aortopulmonary window: a case report.
AUTHOR(S): Marangi-D; Peterson-RJ; Ceithaml-EL; Marvin-WJ Jr
ADDRESS OF AUTHOR: Division of Pediatric Cardiology, University of Florida Health Science Center, Jacksonville, Florida, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Thorac-Cardiovasc-Surg. 1996 Mar; 111(3): 671-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5223
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Goldenhar-Syndrome; Infant,-Newborn
MAJOR MeSH HEADINGS: *Aortopulmonary-Septal-Defect-surgery; *Transposition-of-Great-Vessels-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 96176937
UPDATE CODE: 199607
SUBSET: AIM
Record 72 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Distraction osteogenesis in maxillofacial surgery using internal devices: review of five cases.
AUTHOR(S): Chin-M; Toth-BA
ADDRESS OF AUTHOR: California Pacific Medical Center, San Francisco, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Oral-Maxillofac-Surg. 1996 Jan; 54(1): 45-53; discussion 54
INTERNATIONAL STANDARD SERIAL NUMBER: 0278-2391
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: The purpose of this report is to show the feasibility and potential advantages of using internal devices for distraction osteogenesis in the management of maxillofacial skeletal deficiencies. PATIENTS AND METHODS: Distraction osteogenesis was used to correct a variety of maxillofacial skeletal deformities in five patients. One patient underwent bilateral Le Fort III advancement aided by distraction, three patients underwent mandibular ramus lengthening, and one patient underwent segmental alveolar reconstruction by distraction. The devices were activated by either a transcutaneous or transmucosal pin. After achievement of the desired skeletal transport, the activating pins were disengaged and removed from the distraction device. This allowed the distraction device to remain submerged and to stabilize the site of the consolidating bone. RESULTS: All patients achieved lengthening of their jaws. However, premature consolidation was noted in two patients, and one patient had significant relapse. CONCLUSIONS: Development of internal distraction devices is important to address the limitations of currently available biphasic systems. Potential benefits of internal devices include 1) elimination of skin scarring caused by translation of transcutaneous fixation pins, 2) improved patient compliance during the fixation or consolidation phase because there is no external component, and 3) improved stability of the attachment of the device to the bone.
MINOR MESH HEADINGS: Acrocephalosyndactylia-surgery; Adolescence-; Child-; Child,-Preschool; Feasibility-Studies; Goldenhar-Syndrome-surgery; Infant-; Microstomia-surgery; Osteogenesis-
MAJOR MeSH HEADINGS: *Bone-Lengthening-instrumentation; *Internal-Fixators; *Jaw-surgery; *Micrognathism-surgery; *Osteotomy-instrumentation
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96135025
UPDATE CODE: 199604
SUBSET: AIM; DENTAL
Record 73 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Fibreoptic intubation via a laryngeal mask in an infant with Goldenhar syndrome [letter; comment]
COMMENTS: Comment on: Anaesth Intensive Care 1994 Apr;22(2):194-7
AUTHOR(S): Haxby-EJ; Liban-JB
SOURCE (BIBLIOGRAPHIC CITATION): Anaesth-Intensive-Care. 1995 Dec; 23(6): 753
INTERNATIONAL STANDARD SERIAL NUMBER: 0310-057X
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: AUSTRALIA
MINOR MESH HEADINGS: Bronchoscopes-; Bronchoscopy-instrumentation; Bronchoscopy-methods; Equipment-Design; Fiber-Optics; Infant-; Intubation,-Intratracheal-instrumentation; Surface-Properties
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome; *Intubation,-Intratracheal-methods; *Laryngeal-Masks
CHECKTAGS: Case-Report; Human
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 96238450
UPDATE CODE: 199610
SUBSET: NURSING
Record 74 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings.
AUTHOR(S): Cohen-MS; Samango-Sprouse-CA; Stern-HJ; Custer-DA; Vaught-DR; Saal-HM; Tifft-CJ; Rosenbaum-KN
ADDRESS OF AUTHOR: Department of Medical Genetics, Children's National Medical Center, Washington, DC 20010-2970, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1995 Dec 18; 60(6): 535-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We studied the neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum (OAV) and determined if certain physical manifestations were indicative of a poor neurodevelopmental prognosis. Twenty-four patients with OAV, aged birth to 57 months, were seen in the Department of Medical Genetics at Children's National Medical Center for multidisciplinary evaluations, including neurodevelopmental assessments. Fifty-eight percent of these children scored more than 2 standard deviations below the mean in at least one domain of development. There was no difference in developmental outcome of boys versus girls, children affected unilaterally on the right side versus left side, and those with severe clinical manifestations versus those with a milder form. Children with OAV and abnormal muscle tone had lower cognitive, gross motor, and expressive language scores (P = 0.05, P = 0.002, and P = 0.02, respectively). Those affected bilaterally had lower cognitive, fine motor, receptive language, and expressive language scores (P = 0.06, P = 0.03, P = 0.03, P = 0.02, respectively). Children with cervical spine abnormalities had lower cognitive, fine motor, and expressive language scores (P = 0.02, P = 0.04, and P = 0.04, respectively). We conclude that infants and toddlers with OAV are at increased risk for neurodevelopmental delay, especially those with abnormal muscle tone, bilateral involvement, and cervical vertebral anomalies. The complexity of the neurodevelopmental problems is strongly suggestive of central nervous system disturbances. Patients with OAV need comprehensive evaluation by a multidisciplinary team to define potential neurodevelopmental delays, allow for early intervention services, and promote an optimal developmental outcome.
MINOR MESH HEADINGS: Child,-Preschool; Evoked-Potentials,-Auditory; Infant-; Intelligence-Tests; Motor-Activity; Prognosis-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96423290
UPDATE CODE: 199702
Record 75 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Syringohydromyelia as a complication of Goldenhar syndrome [see comments]
COMMENTS: Comment in: Childs Nerv Syst 1996 Jun;12(6):291
AUTHOR(S): Inci-S; Saglam-S
ADDRESS OF AUTHOR: Department of Neurosurgery, Hacettepe University, Medical School, Ankara, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Childs-Nerv-Syst. 1995 Dec; 11(12): 708-11
INTERNATIONAL STANDARD SERIAL NUMBER: 0256-7040
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Goldenhar syndrome is a multifocal developmental disorder consisting of ocular, auricular and vertebral anomalies. A case of Goldenhar syndrome is presented with a previously undescribed association with syringohydromelia. The pertinent literature is reviewed and possible mechanisms of the pathogenesis of syringohydromyelia in this syndrome are discussed.
MINOR MESH HEADINGS: Child-; Goldenhar-Syndrome-diagnosis; Myelography-; Syringomyelia-diagnosis; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Spinal-Canal-physiopathology; *Syringomyelia-etiology; *Syringomyelia-physiopathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96348510
UPDATE CODE: 199612
Record 76 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Long-term propofol infusion and airway management in a patient with Goldenhar's syndrome.
AUTHOR(S): Fan-SZ; Lee-TS; Chen-LK; Lee-LH; Chu-YL; Tu-J; Liu-CC
ADDRESS OF AUTHOR: Department of Anesthesiology, National Taiwan University Hospital, Taipei, R.O.C.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Anaesthesiol-Sin. 1995 Dec; 33(4): 233-6
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: A 2-year-old patient of Goldenhar's syndrome received an operation for corneal transplantation. Difficult endotracheal intubation from the congenital anomaly was treated with laryngeal mask airway and pediatric fiberoptic laryngoscope. Long-term propofol infusion (> 10 h) for anaesthetic maintenance in this small child was used with rapid and smooth recovery.
MINOR MESH HEADINGS: Child,-Preschool; Laryngeal-Masks
MAJOR MeSH HEADINGS: *Anesthetics,-Intravenous-administration-and-dosage; *Goldenhar-Syndrome-surgery; *Propofol-administration-and-dosage
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 2078-54-8
NAME OF SUBSTANCE: Anesthetics,-Intravenous; Propofol
MEDLINE ACCESSION NUMBER: 96287679
UPDATE CODE: 199611
Record 77 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Goldenhar's syndrome: a case report]
ORIGINAL TITLE: La sindrome di Goldenhar: descrizione di un caso osservato.
AUTHOR(S): Maresca-L; Tarallo-D; Tarallo-MR; Tarallo-S; Giuffre-G
ADDRESS OF AUTHOR: Divisione di Pediatria, Universita degli Studi Federico II di Napoli, Italia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Med-Chir. 1995 Nov-Dec; 17(6): 583-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0391-5387
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: The Authors describe one case of Goldenhar's syndrome. They concentrate on the etiopathogenetic hypothesis and they believe it helps the gradual healing in time.
MINOR MESH HEADINGS: Child,-Preschool; Diagnosis,-Differential; English-Abstract; Goldenhar-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96274514
UPDATE CODE: 199610
Record 78 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar sequence and mosaic trisomy 22.
AUTHOR(S): Pridjian-G; Gill-WL; Shapira-E
ADDRESS OF AUTHOR: Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 70112, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1995 Dec 4; 59(4): 411-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe a term infant with facioauriculo-vertebral "dysplasia" (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, + 22 (72%/28%); skin fibroblasts, 47, XY, + 22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a liveborn infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well.
MINOR MESH HEADINGS: Goldenhar-Syndrome-physiopathology; Infant,-Newborn
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-22; *Goldenhar-Syndrome-genetics; *Trisomy-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96161350
UPDATE CODE: 199605
Record 79 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Surgical management of ocular surface disorders using conjunctival and stem cell allografts.
AUTHOR(S): Coster-DJ; Aggarwal-RK; Williams-KA
ADDRESS OF AUTHOR: Department of Ophthalmology, Flinders University of South Australia, Adelaide, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Ophthalmol. 1995 Nov; 79(11): 977-82
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1161
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: AIMS--The aim of this work was to investigate different surgical options for the repair of the ocular surface, using various extensions of the procedure of limbal stem cell allotransplantation. METHODS/RESULTS--Straightforward lamellar limbal transplantation was performed in one patient with contact lens induced limbal stem cell failure. A second patient with a neoplastic corneal lesion underwent limbal allotransplantation, followed later by a second procedure in which 360 degrees of limbus and the entire ocular surface was transplanted. A third patient who had suffered extensive chemical burns was treated by penetrating keratoplasty to restore central corneal clarity, followed later by a lamellar allograft comprising a 360 degrees annulus of peripheral cornea to repair the ocular surface. A fourth patient with long standing, chronic trachomatous eye disease underwent allotransplantation of the upper lid tarsal plate and conjunctiva, with reconstruction of the fornix. Finally, a child with Goldenhar's syndrome underwent reconstruction of the medial fornix with autologous buccal mucosa, followed by a lamellar corneal and conjunctival allograft. A stable ocular surface has been achieved in each case and there have been no obvious rejection episodes. CONCLUSION--Limbal allotransplantation can be extended to engraftment of the entire superficial cornea, limbus, conjunctiva, and tarsal plate in patients with a range of pathologies. We have described the surgical management of five cases which demonstrate the potential of the technique, but which raise questions which still need to be explored.
MINOR MESH HEADINGS: Adult-; Aged-; Carcinoma-in-Situ-surgery; Child,-Preschool; Contact-Lenses,-Hydrophilic-adverse-effects; Corneal-Diseases-etiology; Eye-Neoplasms-surgery; Limbus-Corneae; Middle-Age; Transplantation,-Homologous
MAJOR MeSH HEADINGS: *Burns,-Chemical-surgery; *Conjunctiva-transplantation; *Corneal-Diseases-surgery; *Eye-Burns-surgery; *Goldenhar-Syndrome-surgery; *Stem-Cells-transplantation
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96137895
UPDATE CODE: 199604
Record 80 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Oculoauriculovertebral spectrum: new manifestations.
AUTHOR(S): Johnson-KA; Fairhurst-J; Clarke-NM
ADDRESS OF AUTHOR: Department of Radiology, Southampton General Hospital, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1995; 25(6): 446-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We present a case of oculoauriculovertebral spectrum (hemifacial microsomia, Goldenhar's syndrome) found shortly after birth with right iliac hypoplasia, absent right pubic and ischial ossification centres and posterior urethral valves, which have not previously been described in this spectrum.
MINOR MESH HEADINGS: Ilium-abnormalities; Infant,-Newborn
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Facial-Asymmetry; *Goldenhar-Syndrome; *Pelvic-Bones-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96071238
UPDATE CODE: 199603
Record 81 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.
AUTHOR(S): Sutphen-R; Galan-Gomez-E; Cortada-X; Newkirk-PN; Kousseff-BG
ADDRESS OF AUTHOR: Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1995 Aug; 48(2): 66-71
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.
MINOR MESH HEADINGS: Child,-Preschool; Infant-; Tracheoesophageal-Fistula-genetics
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Esophagus-abnormalities; *Goldenhar-Syndrome-genetics; *Trachea-abnormalities
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96049824
UPDATE CODE: 199602
Record 82 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar syndrome (oculo-auriculo-vertebral dysplasia): report of two cases.
AUTHOR(S): Ibhanesebhor-SE
ADDRESS OF AUTHOR: Department of Child Health, University of Benin Teaching Hospital, Edo State, Nigeria.
SOURCE (BIBLIOGRAPHIC CITATION): East-Afr-Med-J. 1995 May; 72(5): 333-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-835X
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: KENYA
ABSTRACT: A report of two cases of oculo-auriculo-vertebral dysplasia (Goldenhar syndrome) from Benin City, Nigeria is presented. Both cases were seen in males with normal anthropometric parameters of head circumference, length and birth weight. The diagnosis was made in the neonatal period. Both babies had the consistent features of epibulbar dermiods, pre-auricular tags, and vertebral anomalies, though the lesions were seen on the left side of the body as against the expected right. Suddenly, within the first five weeks of life, both babies died of unknown cause.
MINOR MESH HEADINGS: Anthropometry-; Fatal-Outcome; Goldenhar-Syndrome-pathology; Goldenhar-Syndrome-radiography; Infant-; Infant,-Newborn
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96007075
UPDATE CODE: 199601
Record 83 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Surgical therapy for severe refractory sleep apnea in infants and children: application of the airway zone concept.
AUTHOR(S): Burstein-FD; Cohen-SR; Scott-PH; Teague-GR; Montgomery-GL; Kattos-AV
ADDRESS OF AUTHOR: Center for Craniofacial Disorders, Scottish Rite Children's Medical Center, Atlanta, Ga, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Plast-Reconstr-Surg. 1995 Jul; 96(1): 34-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0032-1052
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Obstructive sleep apnea in children may result in hypoxia, right-sided heart failure, and sudden death. Children with craniofacial deformities and/or cerebral palsy are at high risk for the development of obstructive sleep apnea. Prompted by the excellent results obtained in adults when sleep apnea was managed by an aggressive surgical approach, we undertook a similar treatment philosophy in children. Twenty-eight patients representing four diagnostic groups were evaluated and operated on for severe upper airway obstruction: Down syndrome (n = 5), cerebral palsy (n = 12), Goldenhar syndrome (n = 4), and a mixed apnea group (n = 7). Tracheostomy was avoided in 25 of 28 patients (89 percent), with a marked decrease in apnea (median 90 percent) and hypopnea (median 87 percent) episodes. Tongue hyoid suspension and skeletal expansion procedures, which were the mainstay of treatment, were applied for the first time in children and adolescents with obstructive sleep apnea.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Infant-; Methods-; Postoperative-Care; Sleep-Apnea-Syndromes-etiology
MAJOR MeSH HEADINGS: *Sleep-Apnea-Syndromes-surgery
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95327784
UPDATE CODE: 199510
SUBSET: AIM
Record 84 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Rural home care of a technology-dependent infant.
AUTHOR(S): Clarke-JE
ADDRESS OF AUTHOR: Department of Family Medicine, Univeristy of Alberta, Edmonton.
SOURCE (BIBLIOGRAPHIC CITATION): Can-Fam-Physician. 1995 Jun; 41: 1051-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0008-350X
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: CANADA
ABSTRACT: A multidisciplinary approach is necessary to prepare for home care of technology-dependent infants. The environment must protect, support, and promote the physical, cognitive, and social growth and development of these infants. Parents and caregivers of technology-dependent infants should be taught cardiopulmonary resuscitation and should be helped to develop a plan for obtaining emergency medical assistance.
MINOR MESH HEADINGS: Family-Practice; Home-Care-Services-economics; Infant,-Newborn; Parents-education; Parents-psychology; Patient-Care-Team-organization-and-administration
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-therapy; *Home-Care-Services-organization-and-administration; *Rural-Health; *Technology,-Medical
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95299365
UPDATE CODE: 199509
Record 85 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Classical phenylketonuria associated with Goldenhar's syndrome. A case report.
AUTHOR(S): Tokatli-A; Coskun-T; Kocabas-CN; Ozalp-I; Balci-S
ADDRESS OF AUTHOR: Department of Pediatrics, Hecettepe University Faculty of Medicine, Ankara.
SOURCE (BIBLIOGRAPHIC CITATION): Turk-J-Pediatr. 1994 Apr-Jun; 36(2): 153-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0041-4301
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TURKEY
ABSTRACT: Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). Based on these clinical and biochemical findings, the diagnoses of phenylketonuria and Goldenhar's syndrome were made. To our knowledge, this is the first case with PKU and Goldenhar's syndrome.
MINOR MESH HEADINGS: Infant-
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-complications; *Phenylketonurias-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94287511
UPDATE CODE: 199409
Record 86 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Awake fibreoptic intubation via a laryngeal mask in an infant with Goldenhar's syndrome [see comments]
COMMENTS: Comment in: Anaesth Intensive Care 1995 Dec;23(6):753
AUTHOR(S): Johnson-CM; Sims-C
ADDRESS OF AUTHOR: Department of Anaesthesia, Princess Margaret Hospital for Children, Perth, Western Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Anaesth-Intensive-Care. 1994 Apr; 22(2): 194-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0310-057X
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: AUSTRALIA
MINOR MESH HEADINGS: Anesthesia,-Intratracheal; Awareness-; Bronchoscopes-; Bronchoscopy-instrumentation; Fiber-Optics; Infant,-Newborn; Intubation,-Intratracheal-instrumentation; Intubation,-Intratracheal-methods; Nasal-Septum-abnormalities; Nasal-Septum-surgery
MAJOR MeSH HEADINGS: *Airway-Obstruction-surgery; *Goldenhar-Syndrome-surgery; *Intubation,-Intratracheal; *Laryngeal-Masks; *Tracheostomy-
CHECKTAGS: Case-Report; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94270555
UPDATE CODE: 199409
SUBSET: NURSING
Record 87 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Properties of associations: identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations [editorial; comment]
COMMENTS: Comment on: Am J Med Genet 1994 Jan 1;49(1):14-20
AUTHOR(S): Lubinsky-MS
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Jan 1; 49(1): 21-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Abnormalities,-Multiple-embryology; Abnormalities,-Multiple-genetics; Choanal-Atresia-embryology; Face-abnormalities; Fetal-Development; Goldenhar-Syndrome-classification; Hereditary-Diseases-classification; Infant,-Newborn; Mesoderm-pathology; Morphogenesis-; Risk-Factors
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-classification; *Syndrome-; *Terminology-
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; EDITORIAL
MEDLINE ACCESSION NUMBER: 94226223
UPDATE CODE: 199408
Record 88 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Urologic manifestations of Goldenhar syndrome.
AUTHOR(S): Ritchey-ML; Norbeck-J; Huang-C; Keating-MA; Bloom-DA
ADDRESS OF AUTHOR: Department of Surgery, University of Michigan, Ann Arbor.
SOURCE (BIBLIOGRAPHIC CITATION): Urology. 1994 Jan; 43(1): 88-91
INTERNATIONAL STANDARD SERIAL NUMBER: 0090-4295
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE. Goldenhar syndrome (oculoauriculovertebral dysplasia) is associated with anomalies in multiple organ systems. Renal abnormalities have also been reported with the complex, but the incidence of associated genitourinary malformations has not been defined. METHOD. We have reviewed our experience with 28 children with Goldenhar syndrome evaluated during the past twelve years. Twenty children underwent imaging evaluation of the urinary tract and 14 (70% of those imaged) children had urinary tract anomalies. RESULTS. The majority of anomalies presented as an incidental finding on a screening ultrasound (8 patients) or during cardiac catheterization (2 patients). Two children presented with urinary tract infection, 1 child presented with renal failure, and another was diagnosed antenatally. The genitourinary anomalies included the following: ectopic and/or fused kidneys (8 patients), renal agenesis (7), vesicoureteral reflux (5), ureteropelvic junction obstruction (2), ureteral duplication (2), and multicystic kidney (1 patient). Four children have undergone surgical intervention. CONCLUSION. Our experience in children with Goldenhar syndrome suggests that the incidence of genitourinary anomalies is higher than previously reported. A screening ultrasound in the neonatal period allows for early intervention in those children with significant urologic abnormalities.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Incidence-; Infant-; Infant,-Newborn
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-epidemiology; *Goldenhar-Syndrome; *Urogenital-Abnormalities; *Urogenital-System-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94112802
UPDATE CODE: 199404
Record 89 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar's syndrome--a case report.
AUTHOR(S): Singh-A; Malhotra-G; Singh-GP; Mander-KJ; Gulati-SK
ADDRESS OF AUTHOR: Department of Plastic and Reconstructive Surgery, Government Medical College, Rajendra Hospital, Punjab, India.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Chir-Plast. 1994; 36(4): 111-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-5423
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: CZECH-REPUBLIC
ABSTRACT: A case of Goldenhar's syndrome in a three months old male child with epibulbar dermoid (Fig. 1), accessory auricular appendages (Fig. 2), transverse facial cleft (Figs. 1 and 3), pedunculated mass on the left cheek (Figs. 2 and 3), asymmetry of skull (Fig. 4) and imperforate anus (already operated) is presented. Literature is reviewed briefly and aetiopathogenesis discussed in short.
MINOR MESH HEADINGS: Infant-; Surgery,-Plastic
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95335130
UPDATE CODE: 199510
Record 90 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Rare associations with Goldenhar syndrome [letter]
AUTHOR(S): Vatwani-V; Verma-N; Palta-SC; Dogra-BB
SOURCE (BIBLIOGRAPHIC CITATION): Indian-Pediatr. 1994 Jan; 31(1): 72-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0019-6061
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: INDIA
MINOR MESH HEADINGS: Anophthalmos-radiography; Brain-Diseases-radiography; Calcinosis-radiography; Child,-Preschool; Goldenhar-Syndrome-radiography; India-
MAJOR MeSH HEADINGS: *Anophthalmos-genetics; *Brain-Diseases-genetics; *Calcinosis-genetics; *Goldenhar-Syndrome-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 95189264
UPDATE CODE: 199506
Record 91 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Modern imaging of maxillofacial deformities]
ORIGINAL TITLE: Moderno imaging delle deformita maxillo-facciali.
AUTHOR(S): Pelotti-P; Marchetti-C; Bonetti-M; Monti-C
ADDRESS OF AUTHOR: Servizio di Radiologia, Istituto Ortopedico Rizzoli, Bologna.
SOURCE (BIBLIOGRAPHIC CITATION): Radiol-Med-Torino. 1994 Dec; 88(6): 725-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0033-8362
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Facial malformations make a wide chapter of maxillofacial abnormalities whose treatment needs an accurate clinical-instrumental analysis to quantify malformation entity and to agree on precise lesion classification and subsequent management. Maxillofacial abnormalities are classified as congenital, growth-related and acquired. Congenital deformities include the alterations present at birth, i.e., craniofacial stenosis, oto-mandibular syndrome. Treacher-Collins and Goldenhar syndrome, facial clefts and lip-palate clefts. Growth-related malformations include the deformities appearing during growth and which are called maxillary dysmorphosis, e.g., hemimandibular hyperplasia, prognathism, maxillary hypoplasia, etc. Acquired malformations are those remaining after trauma or cancer surgery and those which are secondary to fibrous dysplasias of the craniofacial complex. May 1990 through May 1993, forty-two patients with different malformations were examined. The malformations secondary to cancer surgery were not included in our series. A radiologic study including conventional skull radiography, teleradiography and panoramic tomography had been performed for preliminary assessment before axial CT studies and 2D and 3D reconstructions. As for our series, in 20 patients coventional radiology was exhaustive to diagnose the disorder and to supply essential elements for treatment planning while axial CT and 3D reconstructions added no further piece of information. Only in the most complex malformations and in all cases of congenital malformations was axial CT needed to assess the type, extent and entity of the malformations allowing both the diagnosis and adequate surgical planning.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cephalometry-methods; Child-; English-Abstract; Goldenhar-Syndrome-radiography; Image-Processing,-Computer-Assisted; Mandible-abnormalities; Mandible-radiography; Maxilla-abnormalities; Maxilla-radiography; Radiography,-Panoramic; Temporomandibular-Joint-injuries; Temporomandibular-Joint-radiography; Tomography,-X-Ray-Computed-methods
MAJOR MeSH HEADINGS: *Facial-Bones-abnormalities; *Facial-Bones-radiography; *Jaw-Abnormalities-radiography; *Mandibulofacial-Dysostosis-radiography; *Maxillofacial-Development
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95183743
UPDATE CODE: 199506
Record 92 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Difficult intubation due to facial malformations in a child. The laryngeal mask as an aid (see comments)]
ORIGINAL TITLE: Schwierige Intubationen bei Gesichtsfehlbildungen im Kindesalter. Die Kehlkopfmaske als Hilfsmittel.
COMMENTS: Comment in: Anaesthesist 1995 Dec;44(12):919-20
AUTHOR(S): Golisch-W; Honig-JF; Lange-H; Braun-U
ADDRESS OF AUTHOR: Zentrum Anaesthesiologie, Rettungs, und Intensivmedizin, Georg-August-Universitat Gottingen.
SOURCE (BIBLIOGRAPHIC CITATION): Anaesthesist. 1994 Nov; 43(11): 753-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-2417
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Variations in anatomy of the bony and soft-tissue structures of the neck and facial cranium due to trauma, disease, or dysmorphic syndromes may lead to severe intubation problems. These patients are admitted for mandibulofacial and otolaryngologic surgery. It is important to inspect the patient's outer and inner pharyngeal structures carefully during preoperative assessment, as suggested by Mallampati. The observer estimates the facility of intubation by inspection of the faucial pillars, soft palate, and uvula. Unfortunately, even careful examination does not predict every case of difficult intubation, so that unexpected problems may occur. There may also be difficulties in ventilating these patients with a face mask. Safe intubation is possible in these cases using the laryngeal mask airway (LMA), laryngoscopy with a rigid optical aid, and the fibreoptic bronchoscope. Case report. We report a 14-month-old girl with Goldenhar's syndrome (oculo-auricular dysplasia) who presented for soft-palate surgery. This syndrome belongs to the group of cranio-mandibular-facial malformations; the main symptoms are congenital unilateral malformations in the area of the 1st and 2nd branchial arches. The patient's jaw was hypoplastic with aplasia of the temporo-mandibular joint, which led to asymmetry of the lower face and an extremely short mandible. Additionally, we observed a large tongue in relation to the small jaw. Macrostomia is part of the syndrome, and may lead to underestimation of intubation problems.(ABSTRACT TRUNCATED AT 250 WORDS)
MINOR MESH HEADINGS: Bronchoscopy-; English-Abstract; Fiber-Optics; Goldenhar-Syndrome-radiography; Goldenhar-Syndrome-surgery; Infant-; Laryngoscopy-; Palate,-Soft-radiography; Palate,-Soft-surgery
MAJOR MeSH HEADINGS: *Anesthesia,-Inhalation; *Goldenhar-Syndrome-complications; *Intubation,-Intratracheal-methods; *Laryngeal-Masks
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95142408
UPDATE CODE: 199505
Record 93 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Fiberscopic intubation under general anesthesia for children with Goldenhar syndrome]
AUTHOR(S): Okuyama-M; Imai-M; Fujisawa-E; Okuyama-A; Kemmotsu-O
ADDRESS OF AUTHOR: Department of Anesthesiology and Intensive Care, Hokkaido University School of Medicine, Sapporo.
SOURCE (BIBLIOGRAPHIC CITATION): Masui. 1994 Dec; 43(12): 1885-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-4892
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Goldenhar syndrome is characterised by an eye abnormality such as epibulbar dermoid and lipoma, associated with ear, mandibular, and/or vertebral anomalies. It is well documented that difficult intubation in patient with this syndrome may be expected because of mandibular hypoplasia and limitation of neck movement resulting from vertebral anomalies. We report anesthetic management of two children with Goldenhar syndrome, 9 and 14-year-old. By preoperative examination, two children were expected to be difficult in intubating trachea. We used our newly developed mask adapter which enabled us to perform fiberoptic bronchoscopy-aided tracheal intubation under general anesthesia under controlled ventilation. By using this adapter, under sevoflurane/nitrous oxide anesthesia with vecuronium, we could successfully intubate with a 6 mm spiral tube through the nostril without any major problems. Anesthesia and surgery went uneventfully, and no postoperative complications were noted. We confirmed that our newly developed mask adapter for fiberoptic bronchoscopy is as useful for children with difficult intubation as for adults.
MINOR MESH HEADINGS: Adolescence-; Bronchoscopy-; Child-; English-Abstract; Fiber-Optics
MAJOR MeSH HEADINGS: *Anesthesia,-General; *Goldenhar-Syndrome; *Intubation,-Intratracheal-instrumentation
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95139219
UPDATE CODE: 199505
Record 94 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.
AUTHOR(S): Singer-SL; Haan-E; Slee-J; Goldblatt-J
ADDRESS OF AUTHOR: Dental Department, Princess Margaret Hospital, Perth, Western Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Aust-Dent-J. 1994 Oct; 39(5): 287-91
INTERNATIONAL STANDARD SERIAL NUMBER: 0045-0421
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: AUSTRALIA
ABSTRACT: Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.
MINOR MESH HEADINGS: Adolescence-; Adult-; Branchial-Region-abnormalities; Branchial-Region-pathology; Child-; Ear,-External-abnormalities; Facial-Asymmetry-pathology; Goldenhar-Syndrome-genetics; Goldenhar-Syndrome-pathology; Malocclusion,-Angle-Class-I-pathology; Malocclusion,-Angle-Class-II-pathology; Mandibular-Condyle-abnormalities; Mandibular-Condyle-pathology; Pedigree-
MAJOR MeSH HEADINGS: *Facial-Asymmetry-genetics; *Genes,-Dominant
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95110260
UPDATE CODE: 199504
SUBSET: DENTAL
Record 95 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: OEIS complex with craniofacial anomalies--defect of blastogenesis?
AUTHOR(S): Haldar-A; Sharma-AK; Phadke-SR; Jain-A; Agarwal-SS
ADDRESS OF AUTHOR: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Oct 15; 53(1): 21-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on a 31-week fetus with hydrocephalus, hypertelorism, microtia, short neck, vertebral and rib defects, scoliosis, omphalocele, exstrophy of bladder, absent external genitalia and pubic rami, imperforate anus, diaphragmatic hernia, defective lobulation of lungs, single kidney, bicornuate uterus, and flexion deformities of the limbs. Similar extensive anomalies in the rostral and caudal regions were described by Russell et al. [Pediatrics, 67:176-182, 1981] and Stewart et al. [Am J Med Genet, 45:426-429, 1993]. The patients described by them had a combination of the oculo-auriculo-vertebral sequence (OAV) and caudal deficiency sequence, whereas the patient reported here can best be described as a combination of OAV and OEIS (omphalocele, exstrophy of bladder, imperforate anus, spinal defects) complexes. The widespread malformations seen in our patient may be the result of an error during blastogenesis.
MINOR MESH HEADINGS: Anus,-Imperforate-embryology; Bladder-Exstrophy-embryology; Goldenhar-Syndrome-complications; Hernia,-Umbilical-embryology; Infant,-Newborn; Spine-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-embryology; *Goldenhar-Syndrome-embryology; *Mesoderm-
CHECKTAGS: Case-Report; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95100284
UPDATE CODE: 199503
Record 96 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: 'Golden hair syndrome' vs. 'Goldenhar syndrome' [letter]
AUTHOR(S): Solow-BK
SOURCE (BIBLIOGRAPHIC CITATION): Am-Fam-Physician. 1994 Jun; 49(8): 1730, 1733
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-838X
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Infant,-Newborn
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 94262543
UPDATE CODE: 199409
SUBSET: AIM
Record 97 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Goldenhar's syndrome associated with tamoxifen given to the mother during gestation [letter]
AUTHOR(S): Cullins-SL; Pridjian-G; Sutherland-CM
SOURCE (BIBLIOGRAPHIC CITATION): JAMA. 1994 Jun 22-29; 271(24): 1905-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-7484
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Breast-Neoplasms-drug-therapy; Infant,-Newborn; Pregnancy-; Pregnancy-Complications,-Neoplastic-drug-therapy
MAJOR MeSH HEADINGS: *Goldenhar-Syndrome-etiology; *Prenatal-Exposure-Delayed-Effects; *Tamoxifen-adverse-effects
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: LETTER
CAS REGISTRY NUMBER OR EC NUMBER: 10540-29-1
NAME OF SUBSTANCE: Tamoxifen
MEDLINE ACCESSION NUMBER: 94260665
UPDATE CODE: 199409
SUBSET: AIM
Record 98 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity [see comments]
COMMENTS: Comment in: Am J Med Genet 1995 Jan 30;55(3):391
AUTHOR(S): Martinez-Frias-ML; Gomar-JL
ADDRESS OF AUTHOR: Departamento de Farmacologia, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Jan 1; 49(1): 74-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe a child with manifestations of the oculo(facio)-auriculo-vertebral spectrum and caudal dysgenesis. This is the sixth axial mesodermal dysplasia sequence case to be reported. The infant was ascertained through the Spanish Collaborative Study of Congenital Malformations (ECEMC). It was possible to calculate the prevalence figure for the association of both conditions in the same child, as well as its expected chance frequency. Comparison of the expected with the observed frequency supports the suggestion that the concurrence of oculo(facio)-auriculo-vertebral sequence and caudal dysgenesis could well constitute a single entity.
MINOR MESH HEADINGS: Abnormalities,-Multiple-epidemiology; Fatal-Outcome; Goldenhar-Syndrome-epidemiology; Infant,-Newborn; Prevalence-; Urinary-Tract-abnormalities
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-classification; *Goldenhar-Syndrome-classification; *Mesoderm-; *Sacrum-abnormalities
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 94226231
UPDATE CODE: 199408
Record 99 of 99 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Cervicovertebral anomalies and basilar impression in Goldenhar syndrome.
AUTHOR(S): Gosain-AK; McCarthy-JG; Pinto-RS
ADDRESS OF AUTHOR: Variety Center for Craniofacial Rehabilitation, New York University Medical Center, NY.
SOURCE (BIBLIOGRAPHIC CITATION): Plast-Reconstr-Surg. 1994 Mar; 93(3): 498-506
INTERNATIONAL STANDARD SERIAL NUMBER: 0032-1052
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Although previously unreported, neurologic compromise may occur secondary to anomalies of the cervical spine in the oculoauriculovertebral spectrum. Medical records and cephalograms were reviewed from 18 patients with classic Goldenhar syndrome and from 18 normal adults. One patient, a 22-year-old man, had experienced a 5-year history of progressive neurologic compromise from basilar impression; the remaining 17 patients were asymptomatic. Radiographic evidence of cervicovertebral fusion was documented in 11 of 18 patients (61 percent). Fusion occurred at every cervical level other than the atlantoaxial joint. Radiographic indices that characterize the cranial base were not significantly different between asymptomatic Goldenhar patients and normal adults. Posterior inclination of the odontoid with respect to the foramen magnum appears to be the best indicator that a patient is at risk for basilar impression. Careful radiographic evaluation may indicate which patients require more careful surveillance with periodic neurologic examination and CT and/or MRI scans.
MINOR MESH HEADINGS: Adolescence-; Adult-; Atlanto-Occipital-Joint-abnormalities; Atlanto-Occipital-Joint-pathology; Atlanto-Occipital-Joint-radiography; Atlas-abnormalities; Atlas-pathology; Atlas-radiography; Axis-abnormalities; Axis-pathology; Axis-radiography; Cephalometry-methods; Cervical-Vertebrae-pathology; Cervical-Vertebrae-radiography; Child-; Child,-Preschool; Foramen-Magnum-pathology; Foramen-Magnum-radiography; Goldenhar-Syndrome-radiography; Infant-; Occipital-Bone-pathology; Occipital-Bone-radiography; Odontoid-Process-abnormalities; Odontoid-Process-pathology; Odontoid-Process-radiography; Risk-Factors; Spinal-Cord-Compression-etiology
MAJOR MeSH HEADINGS: *Cervical-Vertebrae-abnormalities; *Foramen-Magnum-abnormalities; *Goldenhar-Syndrome-pathology; *Occipital-Bone-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94159744
UPDATE CODE: 199406
SUBSET: AIM