TI: Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? [letter]
AU: Fryns-JP; Devriendt-K; Legius-E
SO: Clin-Dysmorphol. 1997 Jul; 6(3): 285-6
ISSN: 0962-8827
PY: 1997
LA: ENGLISH
CP: ENGLAND
MESH: Diagnosis,-Differential; Face-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Frontal-Bone-abnormalities; *Polydactyly-complications; *Syndactyly-complications
TG: Human
PT: LETTER
AN: 97363910
UD: 9711
MEDLINE EXPRESS (R) 10/97-1/98 2 of 55
TI: Malformative syndrome with trigonocephaly, shallow orbits, ptosis, growth and mental retardation. De novo autosomal reciprocal t(9;13)(Q32;Q22) in a male patient.
AU: Fryns-JP; Hendrickx-G
AD: Center for Human Genetics, University of Leuven, Belgium.
SO: Ann-Genet. 1996; 39(1): 51-3
ISSN: 0003-3995
PY: 1996
LA: ENGLISH
CP: FRANCE
AB: We report a de novo autosomal reciprocal translocation t(9;13)(q32;q22) in a mildly to moderately mentally retarded boy. Clinically he presented the typical signs and symptoms of a recently delineated malformative syndrome characterized by trigonocephaly, shallow orbits, ptosis, mental and growth retardation.
MESH: Blepharoptosis-genetics; Growth-Disorders-genetics; Infant,-Newborn; Mental-Retardation-genetics; Orbit-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-13; *Chromosomes,-Human,-Pair-9; *Translocation-Genetics
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96238170
UD: 9711
MEDLINE EXPRESS (R) 10/97-1/98 3 of 55
TI: Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation.
AU: Serra-A; Bova-R; Bellanova-G; Chindemi-A; Zappata-S; Brahe-C
AD: Medical Genetics Service, Miulli Hospital, Acquaviva delle Fonti, Bari, Italy.
SO: Am-J-Med-Genet. 1997 Aug 8; 71(2): 139-43
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a case with a partial monosomy for the regions 9p23 --> pter and 13p11 --> pter as a result of a de novo translocation (9p23;13p11). The patient, a 16-year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogenetic and microsatellite marker analysis allowed us to assign the breakpoint to the chromosomal region 9p23, flanked by the markers D9S144 and D9S157. In an attempt to establish a phenotype-genotype correlation, the clinical manifestations present in our patient are compared to those with partial 9p monosomy and breakpoint in p23, referred to in the literature.
MESH: Adolescence-; Chromosome-Aberrations-genetics; Chromosome-Banding; Chromosome-Breakage; Chromosome-Deletion; DNA-isolation-and-purification; Karyotyping-; Microsatellite-Repeats; Pedigree-; Phenotype-; Polymerase-Chain-Reaction; Syndrome-; Translocation-Genetics
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosomes,-Human,-Pair-11-genetics; *Chromosomes,-Human,-Pair-9-genetics; *Mental-Retardation-genetics; *Obesity-genetics
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 9007-49-2
NM: DNA
AN: 97360183
UD: 9711
MEDLINE EXPRESS (R) 1/97-9/97 4 of 55
TI: Reciprocal translocation 4;11 with both adjacent-1 segregants viable within a family.
AU: Rogers-JC; Harris-DJ; Pasztor-LM
AD: Section of Genetics, The Children's Mercy Hospital, University of Missouri School of Medicine, Kansas City 64108, USA.
SO: Clin-Genet. 1997 Apr; 51(4): 250-6
ISSN: 0009-9163
PY: 1997
LA: ENGLISH
CP: DENMARK
AB: We describe a family carrying a balanced 4;11 translocation in which both adjacent-1 segregants are viable. The proband had an unbalanced karyotype: 46,XY,der(11)t(4;11)(q34.3;q23.1)mat. At 8.5 years of age he showed trigonocephaly, hypertelorism, epicanthal folds, down-slanting palpebral fissures, low-set ears, anteverted nares, down-turned carp-shaped mouth, and bilateral fifth finger clinodactyly. His maternal aunt was also dysmorphic with high-arched palate, short philtrum and mild developmental delay. Her karyotype was 46,XX,der(4)t(4;11)(q34.3;q23.1)pat. Other relatives who likely carried a chromosomally unbalanced segregant were identified from photographs and medical records. We compare the clinical findings in our family with descriptions of other similar karyotypic abnormalities from previous case reports.
MESH: Infant,-Newborn; Karyotyping-; Pedigree-
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-11; *Chromosomes,-Human,-Pair-4; *Translocation-Genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97327580
UD: 9709
MEDLINE EXPRESS (R) 1/97-9/97 5 of 55
TI: Probable Opitz trigonocephaly C syndrome with medulloblastoma.
AU: Omran-H; Hildebrandt-F; Korinthenberg-R; Brandis-M
AD: University Chidren's Hospital, Freiburg University, Federal Republic of Germany.
SO: Am-J-Med-Genet. 1997 Apr 14; 69(4): 395-9
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy.
MESH: Abnormalities,-Multiple-genetics; Cerebellar-Neoplasms-radiography; Fatal-Outcome; Magnetic-Resonance-Imaging; Medulloblastoma-radiography; Syndrome-
MESH: *Abnormalities,-Multiple; *Cerebellar-Neoplasms-complications; *Medulloblastoma-complications
TG: Case-Report; Human
PT: JOURNAL-ARTICLE
AN: 97253031
UD: 9709
MEDLINE EXPRESS (R) 1/97-9/97 6 of 55
TI: [The interdisciplinary approach and early surgery in the trigonocephaly]
TO: Approccio interdisciplinare e chirurgia intercettiva nella trigonocefalia.
AU: De-Ponte-FS; Bottini-DJ; Brunelli-A; Santamaria-S; Iannetti-P; Iannetti-G
AD: Cattedra di Chirurgia Maxillo-Facciale, Universita degli Studi di Roma La Sapienza.
SO: Minerva-Pediatr. 1997 Mar; 49(3): 93-9
ISSN: 0026-4946
PY: 1997
LA: ITALIAN; NON-ENGLISH
CP: ITALY
AB: Craniofacial surgery aims to stop the pathological process due to the presence of one or more malformations affecting this part of the body, in order to prevent and reduce the secondary damage caused by wrong development of the stricken structures. However, in order to achieve this goal, it is necessary to abide by some criteria, like the interdisciplinary nature of therapeutic procedures and early surgery. Since craniofacial malformations affect some anatomical areas that need combined approaches for diagnosing, preventing and correcting the existing anomalies or the possible complications, it is extremely necessary to set a collaboration between different medical and surgical disciplines. Surgical "timing", lasting from 4 to 6 months, is the basis of early surgery, which aims to prevent the morphostructural alterations of the part, assuring again the physiological growth of the stricken tissues. For this reason, craniostenosis are the malformation syndromes that mainly fit this kind of therapeutic protocol. In this document the authors describe the application of the above cited principles for the resolution of the stenosis of the metopic suture in 9 patients (3 males and 6 females), admitted to the Department of Maxillofacial Surgery of the University of Rome "La Sapienza".
MESH: English-Abstract; Infant-
MESH: *Craniosynostoses-surgery; *Patient-Care-Team
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97310209
UD: 9708
MEDLINE EXPRESS (R) 1/97-9/97 7 of 55
TI: Step expansion of the frontal bar: correction of trigonocephaly.
AU: McCarthy-JG; Bradley-JP; Longaker-MT
AD: Institute of Reconstructive Plastic Surgery, New York University Medical Center, New York, USA.
SO: J-Craniofac-Surg. 1996 Sep; 7(5): 333-5
ISSN: 1049-2275
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: In severe trigonocephaly, metopic suture synostosis extends inferiorly to involve the frontoethmoid suture, resulting in orbital hypotelorism. To correct this growth disturbance, a nasofrontal osteotomy with bone graft interposition has been advocated. We describe an alternative procedure, supraorbital bar step expansion, which does not require a bone graft or metallic miniplate fixation. The supraorbital bar step expansion avoids donor site morbidity and the potential for plate migration. This procedure not only corrects orbital distopia, but also improves the anterolateral position of the brows, lateral canthus, and temporal regions.
MESH: Orbit-surgery
MESH: *Craniosynostoses-surgery; *Craniotomy-methods; *Frontal-Bone-surgery
TG: Human
PT: JOURNAL-ARTICLE
AN: 97279402
UD: 9707
SB: DENTAL
MEDLINE EXPRESS (R) 1/97-9/97 8 of 55
TI: Ocular findings in children operated on for plagiocephaly and trigonocephaly.
AU: Denis-D; Genitori-L; Conrath-J; Lena-G; Choux-M
AD: Department of Ophthalmology, Hopital de la Timone Adulte, Marseille, France.
SO: Childs-Nerv-Syst. 1996 Nov; 12(11): 683-9
ISSN: 0256-7040
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: Clinical examination of patients affected by plagiocephaly or trigonocephaly reveals evident malformation of the orbits, and the ocular repercussions are pronounced when children are operated on at an advanced age. Since it is generally accepted that binocular vision is fully developed by approximately 6 months of age, a late correction of plagiocephalic or trigonocephalic skull deformities may be an obstacle to the development of normal visual function. For the present report we investigated astigmatism and strabismus in 53 children, 39 of whom were operated on for plagiocephaly and 14 for trigonocephaly. Traction on the ocular globe induced by the bony deformation caused by the craniosynostosis may explain astigmatism and strabismus.
MESH: Child-; Child,-Preschool; Craniosynostoses-radiography; Follow-Up-Studies; Image-Processing,-Computer-Assisted; Infant-; Infant,-Newborn; Orbit-abnormalities; Orbit-radiography; Orbit-surgery; Refraction,-Ocular; Tomography,-X-Ray-Computed; Vision,-Binocular-physiology
MESH: *Astigmatism-diagnosis; *Craniosynostoses-surgery; *Craniotomy-methods; *Postoperative-Complications-diagnosis; *Strabismus-diagnosis
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97159776
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 9 of 55
TI: Procedure of lateral canthal advancement for the treatment of coronal synostosis.
AU: Hoffman-HJ
AD: Division of Neurosurgery, Hospital for Sick Children, Toronto, Ontario, Canada.
SO: Childs-Nerv-Syst. 1996 Nov; 12(11): 678-82
ISSN: 0256-7040
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: The procedure of lateral canthal advancement has been used at the Hospital for Sick Children, Toronto, since 1973. The patients treated by this technique between 1973 and 1993 consisted of 41 with unilateral coronal synostosis, 13 with trigonocephaly and 29 with craniofacial dysostosis. The results have been excellent in patients with unilateral coronal synostosis and trigonocephaly. Furthermore, 17 of the infants with craniofacial dysostosis needed no further treatment after their initial operation.
MESH: Craniofacial-Dysostosis-radiography; Craniosynostoses-radiography; Follow-Up-Studies; Image-Processing,-Computer-Assisted-instrumentation; Infant-; Postoperative-Complications-radiography; Postoperative-Complications-surgery; Reoperation-; Tomography,-X-Ray-Computed-instrumentation; Treatment-Outcome
MESH: *Craniofacial-Dysostosis-surgery; *Craniosynostoses-surgery; *Craniotomy-methods
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97159775
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 10 of 55
TI: Consensus: trigonocephaly.
AU: Collmann-H; Sorensen-N; Krauss-J
AD: Abteilung fur Padiatrische Neurochirurgie, Neurochirurgische Universitatsklinik, Wurzburg, Germany.
SO: Childs-Nerv-Syst. 1996 Nov; 12(11): 664-8
ISSN: 0256-7040
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: Trigonocephaly mostly occurs in isolated synostosis of the metopic suture, but 10-20% of patients are affected by complex syndromes, and in 2-5% the condition is familial. Intracranial hypertension has been observed in a minority of cases, but is never severe. Surgery is performed mainly for cosmetic reasons, following the standard principles of craniofacial surgery. Complications are rare and satisfactory cosmetic results are generally obtained. There is little likelihood for recurrent deformity.
MESH: Craniosynostoses-radiography; Follow-Up-Studies; Infant-; Postoperative-Complications-radiography; Treatment-Outcome
MESH: *Craniosynostoses-surgery; *Craniotomy-methods
TG: Human
PT: CONSENSUS-DEVELOPMENT-CONFERENCE; JOURNAL-ARTICLE; REVIEW
AN: 97159773
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 11 of 55
TI: Metopic synostosis: in favour of a "simplified" surgical treatment.
AU: Di-Rocco-C; Velardi-F; Ferrario-A; Marchese-E
AD: Section of Pediatric Neurosurgery, Catholic University Medical School, Rome, Italy.
SO: Childs-Nerv-Syst. 1996 Nov; 12(11): 654-63
ISSN: 0256-7040
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: Metopic synostosis is a relatively simple form of craniosynostosis, resulting from premature fusion of the metopic suture. In this pathology different degrees of dysmorphia of the anterior cranial fossa and the presence of associated anomalies of the skull might enable specific subgroups to be identified. Since most functional and cosmetic anomalies benefit from early surgical treatment, over the last few years neurosurgeons have been forced to elaborate less drastic, but nonetheless effective, surgical techniques. In the present report we analyze the surgical results obtained in a series of 62 infants with trigonocephaly operated on within their 1st year of life. Patients were subdivided into two groups (group I: 8 patients; group II: 54 patients) according to the specific dysmorphic characteristics of the frontal bone and anterior cranial fossa, and the presence of compensatory deformities affecting the anterior cranial base and temporo-parietal region. All the patients were treated using one of two relatively simple surgical techniques (procedure A: inversion of two hemifrontal bone flaps--48 cases; procedure B: the "shell" operation--14 cases). Both surgical procedures appeared to be effective, allowing adequate functional and cosmetic correction of the cranial deformity. In patients operated on following procedure B surgical time and blood loss were dramatically reduced. Long-term outcomes were satisfactory in all cases, irrespective of the surgical technique used. In the group II patients, however, progressive normalization of the interorbital distance was constantly observed, suggesting a different degree of stenotic involvement at the level of the anterior cranial base in these patients.
MESH: Adolescence-; Child-; Child,-Preschool; Craniosynostoses-radiography; Follow-Up-Studies; Image-Processing,-Computer-Assisted-instrumentation; Infant-; Postoperative-Complications-radiography; Surgical-Instruments; Tomography,-X-Ray-Computed-instrumentation; Treatment-Outcome
MESH: *Craniosynostoses-surgery; *Craniotomy-instrumentation
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97159772
UD: 9706
MEDLINE EXPRESS (R) 1/97-9/97 12 of 55
TI: Another Arab patient with overlap of Varadi-Papp/Opitz trigonocephaly syndromes?
AU: Sabry-MA; al-Saleh-Q; Farah-S; Obenbergerova-D; Simeonov-S; al-Awadi-SA; Farag-TI
AD: Medical Genetics Centre, Maternity Hospital, Kuwait.
SO: Am-J-Med-Genet. 1997 Jan 10; 68(1): 54-7
ISSN: 0148-7299
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases.
MESH: Arabs-; Infant-; Phenotype-; Tomography,-X-Ray-Computed
MESH: *Craniofacial-Abnormalities-pathology; *Fingers-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97139677
UD: 9705
MEDLINE EXPRESS (R) 1/97-9/97 13 of 55
TI: Coronal suture transplantation to correct fronto-orbital constriction in metopic synostosis.
AU: Mommaerts-MY; Staels-P
AD: Department of Surgery, General Hospital St John, Bruges, Belgium.
SO: Int-Surg. 1996 Apr-Jun; 81(2): 210-4
ISSN: 0020-8868
PY: 1996
LA: ENGLISH
CP: ITALY
AB: Surgical correction of non-syndromatic trigonocephaly is generally considered to be ideally performed at the age of 3 to 6 months. Conventional procedures include flattening of the forehead and straightening of the supraorbital bar by multiple osteotomies. Hypotelorbitism is generally not addressed. Long-term follow-up studies have shown that the orbital configuration does not improve spontaneously. Recently, some centres have proposed simultaneous correction of hypotelorbitism by a median widening osteotomy in the supraorbital bar. In our opinion, these procedures are indicated for patients over the age of 2 years, since further transverse growth is restricted by the plates and bone grafts in the glabella region. A procedure is presented by which both the initial and presumably the long-term correction of the transverse constriction in the forehead, glabella and orbital region is safeguarded by midline transplantation of a suitable piece of coronal sutural area.
MESH: Constriction,-Pathologic
MESH: *Cranial-Sutures-transplantation; *Synostosis-surgery
TG: Human
PT: JOURNAL-ARTICLE
AN: 97068908
UD: 9704
MEDLINE EXPRESS (R) 1/97-9/97 14 of 55
TI: Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
AU: Pivnick-EK; Velagaleti-GV; Wilroy-RS; Smith-ME; Rose-SR; Tipton-RE; Tharapel-AT
AD: Department of Pediatrics, University of Tennessee, Memphis 38163, USA.
SO: J-Med-Genet. 1996 Sep; 33(9): 772-8
ISSN: 0022-2593
PY: 1996
LA: ENGLISH
CP: ENGLAND
AB: We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome. Endocrine evaluation showed growth hormone deficiency and central hypothyroidism. Chromosome analysis showed a 46,XX,del(11)(q23q25) de novo karyotype. Cytogenetically, the deletion appeared to include most of bands 11q23 and q24 and a portion of q25. Using chromosome specific paint probe, a combination of chromosome 11 centromere, telomere, and region specific cosmid probes from 11q14.1-14.3, 11q23.3, and 11q24.1, we have localised the deletion breakpoint to q24.1. Phenotype-karyotype correlation of patients with Jacobsen syndrome and specific deletions of chromosome 11q has enabled us to suggest that the critical region for this syndrome lies in close proximity to cytogenetic band 11q24. Although growth retardation is a consistent finding in 11q deletion syndrome, the presence of hypothalamic-pituitary hormone deficiency has not been reported previously.
MESH: In-Situ-Hybridization,-Fluorescence; Infant-; Karyotyping-; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-11; *Eye-Abnormalities-genetics; *Hypothyroidism-genetics; *Somatotropin-deficiency
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-MULTICASE
RN: 9002-72-6
NM: Somatotropin
AN: 97034924
UD: 9704
MEDLINE EXPRESS (R) 1/97-9/97 15 of 55
TI: Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation [letter]
AU: Fryns-JP
SO: Am-J-Med-Genet. 1996 Aug 23; 64(3): 521-2
ISSN: 0148-7299
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
MESH: Abnormalities,-Multiple-psychology; Developmental-Disabilities; Fingers-abnormalities; Infant-; Intelligence-; Syndactyly-; Syndrome-
MESH: *Abnormalities,-Multiple; *Blepharoptosis-; *Craniofacial-Abnormalities
TG: Female; Human
PT: LETTER
AN: 97015996
UD: 9703
MEDLINE EXPRESS (R) 1/97-9/97 16 of 55
TI: Trigonocephaly associated with anterior basal meningocele. Case report.
AU: Maggi-G; Petrone-G; Aliberti-F; Ruggiero-C
AD: Department of Neurological Sciences, Santobono Hospital, Naples, Italy.
SO: J-Neurosurg-Sci. 1995 Sep; 39(3): 177-80
ISSN: 0390-5616
PY: 1995
LA: ENGLISH
CP: ITALY
AB: Pathogenesis of craniosynostosis is poorly understood. Several different factors (primary fusion of a cranial vault suture, abnormal tensile forces acting on the cranial sutures, genetic control, fetal constraint) may be responsible for the malformation. Trigonocephaly is a relatively rare form of cranial malformation ranging from 5 to 20% of all the craniosynostotic syndromes. This form of craniosynostosis may be simple not associated with other cerebral defects or complex, associated with arhinencephaly and hypoplasia of frontal lobes; three gradations of malformation (marked, mild, incomplete) may be considered. A case of trigonocephaly associated with anterior basal meningocele is reported. The operative treatment and radiological findings are described. The pathogenetic role of the basal meningocele to determine the premature sutural fusion through tensile forces transmitted by abnormal dural attachments is evaluated.
MESH: Craniosynostoses-radiography; Follow-Up-Studies; Infant-; Meningocele-radiography; Nasal-Cavity-radiography; Tomography,-X-Ray-Computed
MESH: *Craniosynostoses-pathology; *Meningocele-pathology; *Nasal-Cavity-pathology
TG: Case-Report; Human
PT: JOURNAL-ARTICLE
AN: 96253706
UD: 9702
MEDLINE EXPRESS (R) 1992-1996 17 of 55
TI: Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum [letter]
AU: Guzzetta-V; Lecora-M; Rossi-G; Berni-Canani-M; Andria-G
SO: Clin-Dysmorphol. 1996 Apr; 5(2): 179-82
ISSN: 0962-8827
PY: 1996
LA: ENGLISH
CP: ENGLAND
AB: Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies.
MESH: Adult-; Fingers-abnormalities; Infant-; Middle-Age; Toes-abnormalities
MESH: *Corpus-Callosum-abnormalities; *Face-abnormalities; *Polydactyly-; *Skull-abnormalities
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: LETTER
AN: 96309024
UD: 9612
MEDLINE EXPRESS (R) 1992-1996 18 of 55
TI: The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes.
AU: Mathijssen-IM; Vaandrager-JM; van-der-Meulen-JC; Pieterman-H; Zonneveld-FW; Kreiborg-S; Vermeij-Keers-C
AD: Department of Plastic and Reconstructive Surgery, Academic Hospital Rotterdam, The Netherlands.
SO: Plast-Reconstr-Surg. 1996 Jul; 98(1): 17-26
ISSN: 0032-1052
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: This paper describes the role of the displacement of bone centers, i.e., the tubers, in the pathogenesis of craniosynostosis. This displacement was studied in 54 patients with isolated or syndromic craniosynostosis in the form of CT scans as well as in two dry neonate skulls with Apert syndrome. For comparison, 49 fetal and 8 normal infant dry skulls were studied. Our investigation was restricted to the coronal and metopic sutures. The results showed a significantly more occipital localization of the frontal bone center and a more frontal localization of the parietal bone center at the side of a synostotic coronal suture in the isolated form as well as in Apert syndrome. In contrast, this was not the case in Crouzon syndrome, thus showing that these two syndromes have a different pathogenesis. For trigonocephaly, a more anteromedial localization of the frontal bone centers was found.
MESH: Acrocephalosyndactylia-embryology; Acrocephalosyndactylia-radiography; Adolescence-; Adult-; Child-; Child,-Preschool; Infant-; Osteogenesis-; Tomography,-X-Ray-Computed
MESH: *Craniofacial-Dysostosis-embryology; *Craniofacial-Dysostosis-radiography; *Craniosynostoses-embryology; *Craniosynostoses-radiography; *Skull-embryology; *Skull-radiography
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96262076
UD: 9610
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 19 of 55
TI: Trigonocephaly-associated hypotelorism: is treatment necessary?
AU: Fearon-JA; Kolar-JC; Munro-IR
AD: Craniofacial Center and the Advanced Surgical Institute at Medical City Dallas, Texas, USA.
SO: Plast-Reconstr-Surg. 1996 Mar; 97(3): 503-9; discussion 510-11
ISSN: 0032-1052
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: This study was designed to examine whether hypotelorism associated with trigonocephaly might be self-correcting. Only patients who required surgical treatment and had undergone preoperative and postoperative anthropometric measurements were included. In no case was any attempt made to correct the hypotelorism surgically. The study sample consisted of 16 patients, of whom 10 underwent preoperative and postoperative computed tomography in addition to anthropometric examinations. The results were compared with sex- and age-matched pooled normal standards, converted to standard Z scores, and analyzed by means of Student's t tests. Both intercanthal and interorbital widths increased significantly postoperatively, with improvements in delta Z scores of 0.445 (p < or = 0.01) and 0.638 (p < or = 0.05). These increases exceeded average growth increments by 1.6 mm for intercanthal width and 1.3 mm for interorbital width. Improvement in the intercanthal widths was significantly greater in the more severely affected children than in those whose conditions were less severe. A greater improvement in interorbital width also was noted in children treated at less than 6 months of age compared with those treated later. The younger the patient at surgery, the greater was the improvement, suggesting that early surgery may somehow release a constraint on interorbital growth.
MESH: Aging-; Anthropometry-; Child,-Preschool; Cranial-Sutures-growth-and-development; Cranial-Sutures-surgery; Craniometry-; Craniosynostoses-surgery; Infant-; Infant,-Newborn; Tomography,-X-Ray-Computed
MESH: *Craniosynostoses-diagnosis
TG: Comparative-Study; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96174961
UD: 9606
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 20 of 55
TI: Two craniosynostotic patients with 11q deletions, and review of 48 cases.
AU: Lewanda-AF; Morsey-S; Reid-CS; Jabs-EW
AD: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914, USA.
SO: Am-J-Med-Genet. 1995 Nov 6; 59(2): 193-8
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Many chromosomal abnormalities have craniofacial manifestations. One such abnormality, partial monosomy of chromosome 11q, is associated with metopic synostosis and resultant trigonocephaly. We reviewed 48 published cases of 11q deletions and translocations. Eighty percent were associated with abnormal head shape. Also commonly found were hypertelorism, ptosis of the eyelids, wide or low nasal bridge, apparently low-set malformed ears, down-turned mouth, micro/retrognathia, digital and cardiac anomalies, and psychomotor retardation. We report on two patients referred for abnormal head shape. The first case had brachycephaly, flat occiput, hypertelorism, and maxillary hypoplasia. Karyotype was 46,XY,del(11)(q24.1-->qter). The second patient had trigonocephaly, hypotelorism, posteriorly angulated ears, horizontal crease below his lower lip, syndactyly, shawl scrotum, cryptorchidism, and inguinal hernias. Karyotype showed partial trisomy of chromosome 4q as well as partial monosomy of 11q [46,XY,11,+der(11)t(4;11) (q31.3;q25)], a combination not previously reported. Deletions of 11q appear to produce a wide spectrum of abnormalities.
MESH: Child-; Chromosome-Aberrations; Chromosomes,-Human,-Pair-4-genetics; Head-abnormalities; Infant-; Karyotyping-; Phenotype-; Translocation-Genetics
MESH: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-11-genetics; *Craniosynostoses-genetics
TG: Case-Report; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
CN: R01DE10180DENIDR; P50DE11131DENIDR; T32GM07471GMNIGMS
AN: 96126322
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 21 of 55
TI: Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome.
AU: Dunac-A; Van-Bogaert-P; David-P; Avni-EF; Paduart-O; Szliwowski-HB; Van-Regemorter-N
AD: Department of Neurology (Pediatric Neurology), Hopital Erasme, Universite Libre de Bruxelles, Belgium.
SO: Neuropediatrics. 1995 Oct; 26(5): 273-5
ISSN: 0174-304X
PY: 1995
LA: ENGLISH
CP: GERMANY
AB: We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome. In addition to craniosynostosis and radial limb defect, which are constant in this syndrome, our patient presents two unusual features: the first is an epidermal nevus and the second is an agenesis of the middle portion of corpus callosum. This unique type of callosal agenesis in the context of a polymalformative disorder supports the hypothesis that partial agenesis of corpus callosum may be due to an event occurring before the 12th week gestation with continued development of the midline structures.
MESH: Child-; Magnetic-Resonance-Imaging; Nevus-diagnosis; Skin-Neoplasms-diagnosis; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Craniosynostoses-diagnosis; *Thumb-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96141218
UD: 9604
MEDLINE EXPRESS (R) 1992-1996 22 of 55
TI: "C" trigonocephaly syndrome with diaphragmnatic hernia.
AU: Addor-MC; Stefanutti-D; Farron-F; Meinecke-P; Lacombe-D; Sarlangue-J; Prescia-G; Schorderet-DF
AD: Division of Medical Genetics, CHUV, Lausanne, Switzerland.
SO: Genet-Couns. 1995; 6(2): 113-20
ISSN: 1015-8146
PY: 1995
LA: ENGLISH
CP: SWITZERLAND
AB: We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
MESH: Child-; Genetic-Counseling; Infant-; Infant,-Newborn; Mental-Retardation-genetics; Phenotype-; Risk-Factors; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Facial-Bones-abnormalities; *Hernia,-Diaphragmatic-genetics; *Skull-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96039932
UD: 9601
MEDLINE EXPRESS (R) 1992-1996 23 of 55
TI: Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
AU: Ramer-JC; Lin-AE; Dobyns-WB; Winter-R; Ayme-S; Pallotta-R; Ladda-RL
AD: Department of Pediatrics, Pennsylvania State University Children's Hospital, Hershey, USA.
SO: Am-J-Med-Genet. 1995 Jul 3; 57(3): 403-9
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome.
MESH: Adolescence-; Blepharoptosis-genetics; Child-; Chromosomes,-Human,-Pair-2; Coloboma-genetics; Developmental-Disabilities-genetics; Frontal-Bone-abnormalities; Gyrus-Cinguli-abnormalities; Infant,-Newborn; Mental-Retardation-genetics; Orbit-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-genetics
TG: Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 95407623
UD: 9512
MEDLINE EXPRESS (R) 1992-1996 24 of 55
TI: "C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review.
AU: Glickstein-J; Karasik-J; Caride-DG; Marion-RW
AD: Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York 10467, USA.
SO: Am-J-Med-Genet. 1995 Mar 27; 56(2): 215-8
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a new case of the Opitz "C" trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotruncal heart defects and midline brain anomalies characterizes patients with this entity.
MESH: Abnormalities,-Multiple-genetics; Craniosynostoses-genetics; Fatal-Outcome; Genes,-Recessive; Infant-; Syndrome-; Tetralogy-of-Fallot-genetics; Tetralogy-of-Fallot-radiography; Tomography,-X-Ray
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Craniosynostoses-diagnosis; *Tetralogy-of-Fallot-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 95351376
UD: 9511
MEDLINE EXPRESS (R) 1992-1996 25 of 55
TI: Evaluation of the effect of early mobilization of the supraorbital bar on the frontal sinus and frontal growth.
AU: Marchac-D; Renier-D; Arnaud-E
AD: Center for Craniofacial Anomalies, Hopital Necker Enfants Malades, Paris, France.
SO: Plast-Reconstr-Surg. 1995 Apr; 95(5): 802-11
ISSN: 0032-1052
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Consequences of early frontocranial remodeling are controversial. It has been said that secondary operations are more difficult and that the frontal sinus does not develop well, with an adverse effect on forehead aesthetics. Some illustrative cases are presented, among 820 operated craniosynostoses, to demonstrate that (1) an early, well-performed frontal advancement and/or remodeling is followed by satisfactory reossification and permits easy secondary surgery, (2) frontal sinus development, which is always impaired in anterior craniosynostosis, is only moderately diminished by early supraorbital bar remodeling (when the frontal bar is repositioned after remodeling, as with trigonocephaly, the frontal sinus develops in 83 percent of cases, whereas when the advancement is significant, as with brachycephaly, the development of the frontal sinus is observed in only 50 percent of the cases), and (3) forehead aesthetics are not linked closely to the development of the frontal sinus. After a significant advancement, even if the sinus does not develop, the frontal bar projection can remain satisfactory.
MESH: Child-; Child,-Preschool; Infant-; Reoperation-
MESH: *Craniosynostoses-surgery; *Frontal-Bone-growth-and-development; *Frontal-Bone-surgery; *Frontal-Sinus-growth-and-development; *Surgery,-Plastic-methods
TG: Human
PT: JOURNAL-ARTICLE
AN: 95224169
UD: 9507
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 26 of 55
TI: Clinical and molecular characterization of patients with distal 11q deletions.
AU: Penny-LA; Dell'Aquila-M; Jones-MC; Bergoffen-J; Cunniff-C; Fryns-JP; Grace-E; Graham-JM Jr; Kousseff-B; Mattina-T; et-al
AD: Division of Medical Genetics, University of California, San Diego, La Jolla 92093-0639.
SO: Am-J-Hum-Genet. 1995 Mar; 56(3): 676-83
ISSN: 0002-9297
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q- patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912.
MESH: Adolescence-; Child-; Child,-Preschool; Chromosome-Mapping; DNA-analysis; Infant-; Polymerase-Chain-Reaction
MESH: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-11; *Gene-Deletion
TG: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
RN: 9007-49-2
NM: DNA
AN: 95193796
UD: 9506
MEDLINE EXPRESS (R) 1992-1996 27 of 55
TI: Brief communication: the skull attributed to Mozart--craniosynostosis or not?
AU: Hauser-G; Kritscher-H
AD: Institute of Histology and Embryology, University of Vienna, Austria.
SO: Am-J-Phys-Anthropol. 1994 Jun; 94(2): 263-8
ISSN: 0002-9483
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: The results of a detailed morphological analysis of the skull attributed to Mozart are presented which refute a recent claim that the skull as well as several of Mozart's portraits show indications of uncomplicated trigonocephaly. These indications according to the present analysis are within the limits of normal variation and derive from retention of part of the long arm of the anterior fontanelle.
MESH: Craniosynostoses-pathology; History-of-Medicine,-18th-Cent.; Skull-pathology
MESH: *Craniosynostoses-history; *Famous-Persons; *Music-history; *Portraits-; *Skull-
TG: Human; Male
PT: HISTORICAL-ARTICLE; BIOGRAPHY; JOURNAL-ARTICLE
PS: Mozart-WA
AN: 94367875
UD: 9412
MEDLINE EXPRESS (R) 1992-1996 28 of 55
TI: 9p-Syndrome.
AU: Boby-J; Karande-SC; Lahiri-KR; Jain-MK; Kanade-S
AD: Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.
SO: J-Postgrad-Med. 1994 Jan-Mar; 40(1): 40-1
ISSN: 0022-3859
PY: 1994
LA: ENGLISH
CP: INDIA
AB: A 2 1/2 month old male child was admitted with loose motions and mild dehydration. He was full term normal delivery, born of a non-consanguinous marriage. On examination, he had trigonocephaly; anteverted nostrils, long philtrum and hypoplastic supraorbital ridges. X-ray showed sutural separation. Karyotyping confirmed deletion of short arm of chromosome 9 distal to band p22.
MESH: Child,-Preschool; Craniofacial-Dysostosis-etiology; Craniofacial-Dysostosis-pathology; Syndrome-
MESH: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-9; *Craniofacial-Dysostosis; *Skull-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96129804
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 29 of 55
TI: [Remodeling the cranial vault in anterior craniosynostoses. Our therapeutic experience of trigonocephaly and plagiocephaly]
TO: Le remodelage de la voute du crane des craniostenoses anterieures. Techniques personnelles de traitement des trigonocephalies et des plagiocephalies.
AU: Czorny-A; Ricbourg-B; Bizette-C; Godard-J; Jacquet-G
AD: Service de Neurochirutgie, CHU, Hopital Jean-Minjoz, Besancon.
SO: Neurochirurgie. 1994; 40(4): 222-6
ISSN: 0028-3770
PY: 1994
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: The authors propose two simple techniques to improve the adaptation of the frontal vault after remodeling the orbito-naso-frontal flap in anterior craniostenosis. In trigonocephaly: the metopic suturectomy is enlarged by lateral translation of the two half frontal bones, then to fall the place the coronal suture is used. The temporal plates are moved forward and turned to fill the failure of fronto-temporal junction due to valgisation of orbito-naso-frontal band. In plagiocephaly: the frontal flattened flap is cut with oblique radial osteotomies starting at bregma so called "Daisy petal". The first internal petal is sacrificed. The others are rotated axially in a medial direction. Internal table corticotomies must be performed at two levels to recurve the flattening and to obtain a curve in the coronal plane. In this two techniques the pericranium and dura-mater must be carefully teated to obtain a better adaptation of the new bone shape and to permit the spontaneous reossification.
MESH: Craniotomy-methods; English-Abstract; Frontal-Bone-surgery; Infant-
MESH: *Craniosynostoses-surgery; *Frontal-Bone-abnormalities; *Osteotomy-methods
TG: Human
PT: JOURNAL-ARTICLE
AN: 95272804
UD: 9508
MEDLINE EXPRESS (R) 1992-1996 30 of 55
TI: [Triangular skull. Apropos of trigonocephaly]
TO: Les cranes triangulaires. A propos de 87 cas de trigonocephalies.
AU: Czorny-A; Forlodou-P; Stricker-M; Ricbourg-B
AD: Service de Neurochirurgie, Hopital Jean-Minjoz, Besancon.
SO: Neurochirurgie. 1994; 40(4): 209-21
ISSN: 0028-3770
PY: 1994
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: The authors present 87 patients with trigonocephaly who were operated on. They take an interest in the consequence of the early synostosis of the metopic suture. The metopic suture combine with the sagittal sutural system, but his spot of manifestation is unambiguous. Its manage the dimension of the frontal bone which himself has repercussions on the set of the orbits. Thereby the fronto-orbito-facial dysmorphy has two component parts. One direct with little frontal bone and a thick sutural spot which extend more or less to the bregma and a second indirect with early deformation of the orbits and late deformation of the parietal bones. Three clinical patterns are described: micro-frontal shape, medio-frontal shape and orbito-frontal shape. In the pure shapes there is no direct impact on the encephalon but the venous stasis is high and probably liable for the encephalic damage when they exist. A single surgical proceeding does not meet the many varieties of deformations. Resection of fused metopic suture from a bifrontal flap; confection of orbito-fronto-nasal band which is opened by greenstick fracture on the metopic site; transposition of an hemicoronal suture between the two hemifrontal valves lateraly translated; foreward mobilisation and interventing temporal flaps. To finish the modeling it is necessary to open the periosteum sheet in order to translate temporal muscles then to overlay with interparietal pedicularly periosteum the anterior step. Metopic synostosis is ordinarily only an aesthetic deformity infrequently associated with intracranial pathology. The treatment must be required for pronounced deformities to prevent significant psychosocial consequences.
MESH: Craniosynostoses-radiography; Craniotomy-; English-Abstract; Frontal-Bone-surgery; Infant-; Skull-abnormalities; Tomography,-X-Ray-Computed
MESH: *Abnormalities,-Multiple; *Craniosynostoses-surgery; *Frontal-Bone-abnormalities
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95272803
UD: 9508
MEDLINE EXPRESS (R) 1992-1996 31 of 55
TI: Ocular findings in trigonocephaly.
AU: Denis-D; Genitori-L; Bardot-J; Saracco-JB; Choux-M; Maumenee-IH
AD: Department of Ophthalmology, Hopital de la Timone, Marseille, France.
SO: Graefes-Arch-Clin-Exp-Ophthalmol. 1994 Dec; 232(12): 728-33
ISSN: 0721-832X
PY: 1994
LA: ENGLISH
CP: GERMANY
AB: BACKGROUND: Trigonocephaly, caused by premature closure of the metopic suture, is a rare form of craniosynostosis. The aim of this study was to assess the visual outcome in children operated on for trigonocephaly. METHODS: We present eight cases of children with trigonocephaly surgically corrected by the same craniofacial technique. CT with 3D reconstruction was performed in all cases. Genitori defined three types of trigonocephaly according to the severity of the deformity of the skull base only types II and III were included in this study directed at evaluation of the ocular disorder. A complete eye examination was performed on all children by the same observer, with a follow-up of 2-6 years. RESULTS: 3D-CT reconstruction of the skull base showed that the frontozygomatic region was affected by the deformation. Ocular examination showed considerable astigmatism in most children with late operation. A low degree of strabismus was observed in most children. CONCLUSION: This study demonstrated that reconstructive surgery should be performed by the age of 6 months, given the immaturity of the visual system up to that time. Close cooperation between neurosurgeons, pediatricians and ophthalmologists is of paramount importance in order to prevent this bone deformation exerting an adverse effect on visual development. The ophthalmologist must possess a basic understanding of the various craniosynostoses.
MESH: Astigmatism-etiology; Craniosynostoses-surgery; Image-Processing,-Computer-Assisted; Infant-; Strabismus-etiology; Tomography,-X-Ray-Computed; Treatment-Outcome; Visual-Acuity
MESH: *Craniosynostoses-complications; *Vision-Disorders-etiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95197027
UD: 9506
MEDLINE EXPRESS (R) 1992-1996 32 of 55
TI: Varadi syndrome or Opitz trigonocephaly: overlapping manifestation in two cousins [letter; comment]
CM: Comment on: Am J Med Genet 1993 Sep 15;47(4):451-5
AU: Bankier-A; Rose-CM
SO: Am-J-Med-Genet. 1994 Oct 15; 53(1): 85-8
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Abnormalities,-Multiple-genetics; Corpus-Callosum-abnormalities; Diagnosis,-Differential; Hamartoma-genetics; Infant,-Newborn; Mental-Retardation-genetics; Polydactyly-genetics; Skull-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Hamartoma-diagnosis; *Hypothalamic-Diseases-congenital
TG: Human
PT: COMMENT; LETTER
AN: 95100299
UD: 9503
MEDLINE EXPRESS (R) 1992-1996 33 of 55
TI: [Physiopathological approach and antenatal diagnosis of diabetes mellitus insulin resistant: apropos of a case with leprechaunism]
TO: Approche physiopathologique et diagnostic antenatal du diabete insulinoresistant: a propos d'un cas de leprechaunisme.
AU: Danan-C; Amselem-S; Dassieu-G; Cohen-R; Janaud-JC
AD: Service de pediatrie et de reanimation neonatale, hopital intercommunal de Creteil, France.
SO: Arch-Pediatr. 1994 Mar; 1(3): 268-72
ISSN: 0929-693X
PY: 1994
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: BACKGROUND--Leprechaunism is characterized by severe intrauterine growth retardation, elfin-like face, relatively large hands, feet and genitalia and abnormal skin with hypertrichosis, acanthosis nigricans and low subcutaneous fat. The insulin receptors have multiple defects. CASE REPORT--A boy was born after cesarean section at the 35th week of gestation because of intrauterine growth retardation: weight: 930 g; height: 36 cm; head circumference: 27 cm. He had trigonocephaly, coarse features and hyperkeratosis. Ultrasonography confirmed the presence of a ventricular septal defect detected during pregnancy. Hyperglucosemia (3 g/l) was associated with insulinemia above 350 mU/l; his C-peptide concentration was above 20 ng/ml. The patient was given intravenous insulin, up to 2,500 U/kg/d. He died at the age of 95 days, weighing 1500 g, with persistent hyperglucosemia and cholestasis. Postmortem examination showed adrenal and thymus hypoplasia and hyperplasia of pancreatic islet cells. Molecular biology studies showed that this patient was heterozygotic for two mutations, one in exon 20 inherited from his father, the other in exon 18 inherited from his mother; both mutations are associated with tyrosine-kinase activity of the insulin receptor. These results will be used for antenatal diagnosis in any future pregnancy. CONCLUSION--Molecular biology can indicate specific defects in the insulin receptor. It may also allow antenatal diagnosis in some families.
MESH: Abnormalities,-Multiple-diagnosis; Cesarean-Section; Diabetes-Mellitus,-Non-Insulin-Dependent-genetics; English-Abstract; Heart-Septal-Defects,-Ventricular-diagnosis; Infant,-Newborn; Insulin-Resistance; Pregnancy-; Pregnancy-in-Diabetes-diagnosis; Syndrome-
MESH: *Diabetes-Mellitus,-Non-Insulin-Dependent-diagnosis; *Diabetes-Mellitus,-Non-Insulin-Dependent-physiopathology; *Fetal-Growth-Retardation-diagnosis; *Prenatal-Diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95086585
UD: 9503
MEDLINE EXPRESS (R) 1992-1996 34 of 55
TI: FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype.
AU: Chu-TW; Teebi-AS; Gibson-L; Breg-WR; Yang-Feng-TL
AD: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
SO: Am-J-Med-Genet. 1994 Aug 1; 52(1): 92-6
ISSN: 0148-7299
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly.
MESH: Chromosome-Mapping; In-Situ-Hybridization,-Fluorescence; Infant,-Newborn; Phenotype-
MESH: *Abnormalities,-Multiple-genetics; *Aneuploidy-; *Chromosomes,-Human,-Pair-13; *Hand-Deformities,-Congenital-genetics; *Skull-abnormalities; *Trisomy-genetics
TG: Case-Report; Female; Human; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: GM07439GMNIGMS
AN: 95068079
UD: 9502
MEDLINE EXPRESS (R) 1992-1996 35 of 55
TI: Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.
AU: Ramos-Fuentes-FJ; Nicholson-L; Scott-CI Jr
AD: Dept. Pediatria, Hospital Clinico Universitario, Zaragoza, Spain.
SO: Eur-J-Pediatr. 1994 Jul; 153(7): 483-7
ISSN: 0340-6199
PY: 1994
LA: ENGLISH
CP: GERMANY
AB: We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.
MESH: Arm-abnormalities; Child,-Preschool; Craniosynostoses-genetics; Phenotype-; Syndrome-; Thumb-abnormalities
MESH: *Abnormalities,-Multiple-genetics
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-Non-P.H.S.
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95045709
UD: 9502
MEDLINE EXPRESS (R) 1992-1996 36 of 55
TI: Cranial reshaping of rare concordant dizygotic twins with trigonocephaly.
AU: Satoh-K; Uemura-T; Hamajima-A; Iwata-T
AD: Department of Plastic and Reconstructive Surgery, Showa University School of Medicine, Tokyo, Japan.
SO: Plast-Reconstr-Surg. 1994 Jan; 93(1): 172-7
ISSN: 0032-1052
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Craniofacial surgery for craniosynostosis is now often performed, and many cases have been reported. Twinning among these cases is of particular interest. An extremely rare case of cranial reshaping of concordant dizygotic twins with trigonocephaly is described in this report.
MESH: Frontal-Bone-abnormalities; Infant,-Newborn; Surgery,-Plastic-methods; Twins,-Dizygotic
MESH: *Craniosynostoses-surgery; *Diseases-in-Twins; *Frontal-Bone-surgery
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94105264
UD: 9404
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 37 of 55
TI: Metopic synostosis: quantitative assessment of presenting deformity and surgical results based on CT scans.
AU: Posnick-JC; Lin-KY; Chen-P; Armstrong-D
AD: Craniofacial Center, Georgetown University Medical Center, Washington, D.C.
SO: Plast-Reconstr-Surg. 1994 Jan; 93(1): 16-24
ISSN: 0032-1052
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: Our study applied a method of using 14 clinically relevant measurements of CT scan images to document skeletal dysmorphology in patients with metopic synostosis to determine the effectiveness of their surgical procedure after a minimum of 1 year. Ten consecutive patients with metopic synostosis who underwent a standard surgical procedure were reviewed. Preoperative and postoperative (> 1 year) CT scans were compared with those of age-matched controls. Percentages of normal were then compared for significant differences. Preoperative cranial vault measurements revealed a narrowed anterior intercoronal distance at 92 percent of normal. Orbital measurements showed a narrowed anteromedial wall interorbital distance at 79 percent of normal, a narrowed lateral orbital wall distance at 94 percent, and an elevated medial orbital wall protrusion beyond the plane of the lateral orbital walls at 115 percent. After surgery, the intercoronal distance was significantly corrected to 101 percent, the anteromedial wall interorbital distance was improved but remained undercorrected at 90 percent, and the medial wall protrusion was significantly decreased to 98 percent of normal. Quantitative measurements of CT scan images confirmed clinically observed physical findings in unoperated trigonocephaly to be orbital hypotelorism, retruded lateral orbital rims, and a narrowed bitemporal width. The surgical technique corrected the lateral orbital wall aspects of the deformity as well as the narrowed anterior cranial vault width and improved the orbital hypotelorism.
MESH: Cephalometry-; Child,-Preschool; Craniosynostoses-radiography; Facial-Bones-anatomy-and-histology; Facial-Bones-radiography; Facial-Bones-surgery; Follow-Up-Studies; Infant-; Postoperative-Care; Preoperative-Care; Retrospective-Studies; Skull-radiography; Skull-surgery; Time-Factors; Tomography,-X-Ray-Computed
MESH: *Craniosynostoses-surgery; *Skull-anatomy-and-histology
TG: Comparative-Study; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94105261
UD: 9404
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 38 of 55
TI: Prenatal diagnosis of deletion 11q23-->qter. Report of two unrelated cases.
AU: Caiola-A; Altissimi-D; Brinchi-V; Maggi-E; Mingarelli-R
AD: Centro di Diagnosi Prenatale, Universita la Sapienza, Roma, Italy.
SO: Ann-Genet. 1993; 36(4): 228-30
ISSN: 0003-3995
PY: 1993
LA: ENGLISH
CP: FRANCE
AB: Two cases of de novo deletion of the region distal to 11q23 were detected at cordocentesis, following sonographic evidence of malformations. Consistent findings in both fetuses were an abnormal amount of amniotic fluid, growth retardation, heart and renal defects. At delivery, the characteristic facial dysmorphisms of del(11q23) syndrome were also detected, including trigonocephaly, hypertelorism, abnormal slant of palpebral fissures, micrognathia and abnormal ears.
MESH: Adult-; Karyotyping-; Pregnancy-
MESH: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-11; *Ultrasonography,-Prenatal
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94219791
UD: 9407
MEDLINE EXPRESS (R) 1992-1996 39 of 55
TI: Varadi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins [see comments]
CM: Comment in: Am J Med Genet 1994 Oct 15;53(1):85-8
AU: Cleper-R; Kauschansky-A; Varsano-I; Frydman-M
AD: Department of Pediatrics, Hasharon Hospital, Petah Tiqwa, Israel.
SO: Am-J-Med-Genet. 1993 Sep 15; 47(4): 451-5
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on 2 cousins, offspring of consanguineous matings, with multiple congenital anomalies. Square face, frontal bossing with metopic ridge, small anteverted nose, flat nasal bridge, slanted palpebral fissures, and epicanthal folds contributed to an unusual appearance. Multiple bucco-alveolar frenula and notched inferior alveolar ridges were present at birth and one had a notched uvula and submucous cleft of the hard palate. Both had congenital heart anomalies, micropenis, and cryptorchidism. Persistence of Mullerian structures was documented at necropsy in one patient. The surviving patient was mentally retarded and had unilateral central hexadactyly and partial agenesis of the corpus callosum. Bulimia and episodic hyperthermia were attributed to hypothalamic dysfunction. Results of unstimulated endocrine studies and gonadotropin releasing hormone (GnRH), and human chorionic gonadotropin (HCG) stimulation tests were normal. The manifestations of the 2 patients overlap those reported in the OFD VI and Opitz trigonocephaly syndromes.
MESH: Abnormalities,-Multiple-genetics; Diagnosis,-Differential; Genitalia-abnormalities; Hand-Deformities,-Congenital-genetics; Heart-Defects,-Congenital-genetics; Infant,-Newborn; Mental-Retardation-genetics; Pedigree-; Skull-abnormalities; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94078982
UD: 9403
MEDLINE EXPRESS (R) 1992-1996 40 of 55
TI: Molecular and cytogenetic characterization of 9p- abnormalities.
AU: Teebi-AS; Gibson-L; McGrath-J; Meyn-MS; Breg-WR; Yang-Feng-TL
AD: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
SO: Am-J-Med-Genet. 1993 May 15; 46(3): 288-92
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p-syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations. In addition to psychomotor retardation, their manifestations were mild and include upward slant of palpebral fissures and dolichomesophalangy which are characteristic of del(9p). Chromosome abnormalities were de novo in both cases. The two rearranged chromosomes 9 exhibit similar G-banding patterns and suggested the possible duplication of distal 7p. Fluorescence in situ hybridization (FISH) with a chromosome-7 specific library probe indeed identified that one derivative chromosome 9 was the result of a translocation between chromosomes 7 and 9 [der(9)t(7;9)(p15.3;p24] but failed to detect a signal on the other derivative 9. In the second case, the concurrent abnormality was an inverted duplication of proximal 9p and deletion of distal 9p [inv dup(9)(p13-->p22::p22-->qter)] confirmed by FISH using a chromosome 9 specific library probe. FISH clearly identified the origin of these 2 abnormal chromosomes 9 and provided crucial information for clinical evaluation. We emphasize the importance of utilizing updated cytogenetic and molecular techniques in the precise delineation of subtle or complex abnormalities where there are no useful phenotypic clues.
MESH: Azure-Stains; Chromosome-Banding; Chromosome-Deletion; Chromosomes,-Human,-Pair-7; In-Situ-Hybridization,-Fluorescence; Infant-; Infant,-Newborn; Inversion-Genetics; Karyometry-; Translocation-Genetics
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations; *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-9; *Craniofacial-Dysostosis-genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 0
NM: Azure-Stains
AN: 93256111
UD: 9308
MEDLINE EXPRESS (R) 1992-1996 41 of 55
TI: Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies.
AU: Masuno-M; Asano-J; Yasuda-K; Kondo-T; Orii-T
AD: Department of Pediatrics, Gifu University School of Medicine, Japan.
SO: Am-J-Med-Genet. 1993 Jan 1; 45(1): 65-7
ISSN: 0148-7299
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a 19-month-old girl with a derivative chromosome 9 and a recombinant chromosome 12 resulting from a maternal balanced complex rearrangement involving chromosomes 8, 9, and 12. The karyotype of the phenotypically normal mother was 46,XX,t(8;12) (9;12) (8qter-->8p23::12q12-->12q 15::9q32-->9qter;9pter-->9q32::12q15--> 12qter; 12pter-->12q12::8p23-->8pter). The child's karyotype was 46,XX,-9,-12, +der(9) (9pter-->9q32::12q15-->12qter), +rec(12) (12pter-->12q15::9q32-->9qter) mat. The child had severe growth retardation, minor anomalies including trigonocephaly, hypertelorism, broad nasal root, apparently low-set and posteriorly angulated ears, triangular face, pectus carinatum, clinodactyly of fifth fingers, and almost normal psychomotor development. To the best of our knowledge, there have been only 3 previous reports of recombination derived from parental complex chromosome rearrangements. In the recombination products, the chromosomes were apparently balanced and the offspring had no clinical abnormalities. The present case exhibited abnormalities and may have a submicroscopic aberration of 12q arising from crossing over during maternal meiotic pairing, although her chromosomes appeared to be balanced.
MESH: Chromosome-Banding; Chromosomes,-Human,-Pair-8; Growth-Disorders-genetics; Infant-; Karyotyping-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Aberrations-genetics; *Chromosomes,-Human,-Pair-12; *Chromosomes,-Human,-Pair-9; *Recombination,-Genetic-genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93118708
UD: 9304
MEDLINE EXPRESS (R) 1992-1996 42 of 55
TI: [No, Mozart was not trigonocephalic]
TO: Non, Mozart n'etait pas porteur d'une trigonocephalie.
AU: Czorny-A; Ricbourg-B
AD: Service de Neuro-chirurgie, CHU Hopital Jean Minjoz, Besancon.
SO: Ann-Chir-Plast-Esthet. 1992 Jun; 37(3): 321-8
ISSN: 0294-1260
PY: 1992
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: The precise circumstances of Mozart's death and burial remain unclear at now. In this, the ownership of the skull supposedly belonging to the great musician and deposed at the Salzburg Museum is still a matter of controversy. A comparison between the cephalometric dental and cranial characteristics of this skull and portraits of Mozart, either genuine or reconstituted, has been established. The hypothesis of a trigonocephaly reported initially by Puech and Tichy seems to need modification to the benefit of a regional brachycephaly. On the other hand our study does confirm the great probability for this skull to be Mozart's one.
MESH: Austria-; Craniometry-; Craniosynostoses-pathology; English-Abstract; History-of-Medicine,-18th-Cent.; Music-history; Portraits-; Skull-pathology
MESH: *Famous-Persons; *Skull-abnormalities
TG: Human
PT: HISTORICAL-ARTICLE; BIOGRAPHY; JOURNAL-ARTICLE
PS: Mozart-A
AN: 93207357
UD: 9306
MEDLINE EXPRESS (R) 1992-1996 43 of 55
TI: Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
AU: Obregon-MG; Mingarelli-R; Digilio-MC; Zelante-L; Giannotti-A; Sabatino-G; Dallapiccola-B
AD: Servizio di Genetica Medica, Ospedale Bambino Gesu', IRCCS, Roma, Italy.
SO: Ann-Genet. 1992; 35(4): 208-12
ISSN: 0003-3995
PY: 1992
LA: ENGLISH
CP: FRANCE
AB: Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and reduced platelet count. This syndrome, originally reported by Jacobsen, is now corroborated by more than 35 patients and appears as the most common deletion involving 11q. Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome.
MESH: Face-abnormalities; Infant,-Newborn; Muscle-Hypotonia-genetics; Phenotype-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-11-ultrastructure; *Mental-Retardation-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93207373
UD: 9306
MEDLINE EXPRESS (R) 1992-1996 44 of 55
TI: Trigonocephaly.
AU: Zanini-SA; Paglioli-Neto-E; Viterbo-F; da-Costa-AR; Tershakowec-M
AD: Hospital de Reabilitacao de Bauru, Universidade de Sao Paulo, Brazil.
SO: J-Craniofac-Surg. 1992 Sep; 3(2): 85-9
ISSN: 1049-2275
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Trigonocephaly has been described either as an isolated anomaly or as part of the clinical spectrum of some well-known syndromes. Treatment, complications, and prognosis are closely related to the manifestations of the associated anomalies. We report on the main types of syndromes with trigonocephaly and the management of this condition.
MESH: Craniosynostoses-surgery; Infant,-Newborn; Prognosis-; Syndrome-
MESH: *Abnormalities,-Multiple; *Cranial-Sutures-abnormalities; *Craniosynostoses-
TG: Human
PT: JOURNAL-ARTICLE
AN: 93176872
UD: 9306
SB: DENTAL
MEDLINE EXPRESS (R) 1992-1996 45 of 55
TI: The 11q- syndrome with mosaic partial deletion of 11q.
AU: Ishida-Y; Watanabe-N; Ishihara-Y; Matsuda-H
AD: Department of Pediatrics, Ehime University School of Medicine, Japan.
SO: Acta-Paediatr-Jpn. 1992 Dec; 34(6): 592-6
ISSN: 0374-5600
PY: 1992
LA: ENGLISH
CP: JAPAN
AB: A female child with mosaic partial deletion of 11q is reported. At 1 month of age she was presented with cogenital glaucoma, trigonocephaly and multiple minor anomalies. She exhibited growth retardation and the typical phenotype of 11q- syndrome. G-banding analysis failed to show any abnormality, although subsequent high resolution banding revealed the abnormal karyotype 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25). This case is a second case of mosaic 11q- syndrome and her karyotype suggests that the region of 11q23.3-11q24.2 is critical in 11q-syndrome. Congenital glaucoma has never been reported as a complication of 11q- syndrome.
MESH: Chromosome-Banding; Forehead-abnormalities; Glaucoma-congenital; Infant-; Karyotyping-; Mouth-Abnormalities-genetics; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-11; *Eyelids-abnormalities; *Growth-Disorders-genetics; *Mental-Retardation-genetics; *Mosaicism-; *Skull-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93158339
UD: 9305
MEDLINE EXPRESS (R) 1992-1996 46 of 55
TI: Saethre-Chotzen syndrome with trigonocephaly.
AU: Cristofori-G; Filippi-G
AD: Divisione di Neuropsichiatria Infantile, Universita degli Studi, Trieste, Italy.
SO: Am-J-Med-Genet. 1992 Nov 15; 44(5): 611-4
ISSN: 0148-7299
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with medial schisis at the foramen occipitalis. The mother showed a mild expression of the syndrome.
MESH: Acrocephalosyndactylia-genetics; Adult-; Bone-Diseases,-Developmental-diagnosis; Consanguinity-; Dermatoglyphics-; Diagnosis,-Differential; Head-radiography; Infant-; Tomography,-X-Ray-Computed
MESH: *Acrocephalosyndactylia-diagnosis; *Skull-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93128299
UD: 9304
MEDLINE EXPRESS (R) 1992-1996 47 of 55
TI: Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
AU: Schaap-C; Schrander-Stumpel-CT; Fryns-JP
AD: Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
SO: Genet-Couns. 1992; 3(4): 209-15
ISSN: 1015-8146
PY: 1992
LA: ENGLISH
CP: SWITZERLAND
AB: We report on two patients with a complicated form of trigonocephaly. The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly "sequence" rather than presenting characteristic features of a syndrome. More specific are the intra-oral anomalies, abnormally modelled ears, cardiac anomalies and neonatal hypotonia. All surviving patients are severely retarded. Since almost all patients are sporadic cases we suggest that the "C"-syndrome is a cytogenetically yet undetectable microdeletion syndrome.
MESH: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Cephalometry-; Child-; Child,-Preschool; Craniosynostoses-diagnosis; Follow-Up-Studies; Infant-; Mental-Retardation-diagnosis; Syndrome-
MESH: *Craniosynostoses-genetics; *Mental-Retardation-genetics
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 93112335
UD: 9304
MEDLINE EXPRESS (R) 1992-1996 48 of 55
TI: [Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin]
TO: Opitz-Trigonozephalie-Syndrom--ein charakteristiches Dysmorphie-Retardierungssyndrom unklarer Genese.
AU: Choudhury-AR; Renneberg-A; Rackowitz-A; Stephani-U
AD: Mucosal Immunology Laboratory, Harvard Medical School, Charlestown/Boston.
SO: Klin-Padiatr. 1992 May-Jun; 204(3): 171-3
ISSN: 0300-8630
PY: 1992
LA: GERMAN; NON-ENGLISH
CP: GERMANY
AB: Report on a patient with Opitz-Trigonocephaly-Syndrome who was diagnosed at the age of ten months. He had a trigonocephaly and multiple other stigmata including oblique orbital fissures, internal strabism, high and narrow palate with broad alveolar ridges, microstomia, large dysplastic ears, nuchal cutis laxa, broad clumsy fingers. Additionally he had a ventricular septal defect, was dystrophic and developmentally retarded. Chromosomal analysis was normal. A sister that was recently born showed no dysmorphic signs. So far, 24 cases have been reported in the literature. This is the 5th patient in Germany.
MESH: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-rehabilitation; Chromosome-Abnormalities-genetics; English-Abstract; Genes,-Recessive; Infant-; Mental-Retardation-genetics; Mental-Retardation-rehabilitation; Physical-Therapy; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Mental-Retardation-diagnosis; *Skull-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 92309894
UD: 9210
MEDLINE EXPRESS (R) 1991 49 of 55
TI: Skull base in trigonocephaly.
AU: Genitori-L; Cavalheiro-S; Lena-G; Dollo-C; Choux-M
AD: Department of Pediatric Neurosurgery, Hopital des enfants La Timone, Marseille, France.
SO: Pediatr-Neurosurg. 1991-92; 17(4): 175-81
ISSN: 1016-2291
PY: 1991
LA: ENGLISH
CP: SWITZERLAND
AB: The authors present aspects of the skull base in trigonocephalic children. Different patterns on clinical anthropometric investigation, bidimensional computer tomography (CT) scan and three-dimensional (3D) CT scan were studied. We present a series of 27 cases of trigonocephaly operated on in the department of pediatric neurosurgery at the Hopital des enfants La Timone in Marseille since 1975. The skull base has been studied with CT scan in 12 patients and in 5 a 3D CT reconstruction was performed. A control series of 27 children without synostosis has been studied with the same patterns. We have analyzed in 3D, the volume of the anterior fossa related to the orbital volume, the permeability of basal sutures and the spatial orientation of petrous, sphenoid and zygomatic bones. An analysis of nasoethmoidal complex was performed in relation with hypotelorism. CT scan allows the study of the opening of orbital, nasion-pterional angles and the clinopterional angles, as well as nasion-clinoidal and bipterional distances. A computerized analysis of these data compared with normal skull base permits a new approach to these malformations and the necessity for subdivision of trigonocephaly.
MESH: Cranial-Sutures-radiography; Facial-Bones-radiography; Image-Processing,-Computer-Assisted; Infant-; Orbit-abnormalities; Orbit-radiography; Skull-radiography
MESH: *Cephalometry-; *Craniosynostoses-radiography; *Facial-Bones-abnormalities; *Skull-abnormalities; *Tomography,-X-Ray-Computed
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92345071
UD: 9211
MEDLINE EXPRESS (R) 1991 50 of 55
TI: Short clinical report: a new case with de novo partial 9p monosomy.
AU: Nagy-E; Bod-M; Nemeth-I; Timar-L
AD: Dept. of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
SO: Acta-Paediatr-Hung. 1991; 31(4): 407-13
ISSN: 0001-6527
PY: 1991
LA: ENGLISH
CP: HUNGARY
AB: A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele. The first Hungarian case of 9p monosomy syndrome is reported here.
MESH: Infant,-Newborn; Karyotyping-; Syndrome-
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-9
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92162366
UD: 9206
MEDLINE EXPRESS (R) 1991 51 of 55
TI: [Opitz' trigonocephaly syndrome]
TO: Opitz' Trigonocephalie Syndrom.
AU: Prager-B; Hinkel-GK; Lorenz-P
AD: Institut fur Klinische Genetik, Medizinischen Akademie Carl Gustav Carus, Dresden.
SO: Kinderarztl-Prax. 1991 Nov; 59(11): 346-8
ISSN: 0023-1495
PY: 1991
LA: GERMAN; NON-ENGLISH
CP: GERMANY
AB: The Opitz' Trigonocephaly Syndrome, also called C-syndrome is an important autosomal recessive inherited disorder with characteristic synostosis of metopic suture, craniofacial abnormalities and severe mental retardation. Some patients show chromosomal aberrations with the possibility of prenatal diagnosis. Are reported on three children from two families with typical dysmorphic stigmata of the syndrome.
MESH: English-Abstract; Infant,-Newborn; Syndrome-
MESH: *Abnormalities,-Multiple; *Facial-Bones-abnormalities; *Mental-Retardation-complications; *Microcephaly-complications
TG: Human; Male
PT: JOURNAL-ARTICLE
AN: 92099523
UD: 9204
MEDLINE EXPRESS (R) 1991 52 of 55
TI: Opitz trigonocephaly syndrome.
AU: Haaf-T; Hofmann-R; Schmid-M
AD: Department of Genetics, Stanford University School of Medicine, CA 94305.
SO: Am-J-Med-Genet. 1991 Sep 15; 40(4): 444-6
ISSN: 0148-7299
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.
MESH: Face-abnormalities; Infant,-Newborn; Micrognathism-genetics; Pedigree-
MESH: *Abnormalities,-Multiple-genetics; *Eisenmenger-Complex-genetics; *Genes,-Recessive-genetics; *Head-abnormalities; *Heart-Defects,-Congenital-genetics; *Mental-Retardation-genetics
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 92081834
UD: 9203
MEDLINE EXPRESS (R) 1991 53 of 55
TI: Orbital teratoma associated with trigonocephaly.
AU: Sadove-AM; Kalsbeck-JE; Ellis-FD; Eppley-BL; Elluru-R
AD: Craniofacial Program, James Whitcomb Riley Hospital for Children, Indianapolis, Ind.
SO: Plast-Reconstr-Surg. 1991 Dec; 88(6): 1059-63
ISSN: 0032-1052
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: A rare case of congenital orbital teratoma that developed concurrently with the clinical findings of metopic sutural synostosis in an infant is presented. A cause-and-effect and/or embryologic relationship between these two cephalic malformations is possible, although coincidental occurrence is equally probable. The proximity of these congenital anomalies permitted complete resolution in a one-stage craniofacial procedure without alteration in the surgical technique.
MESH: Craniosynostoses-surgery; Infant-; Orbital-Neoplasms-complications; Orbital-Neoplasms-surgery; Teratoma-complications; Teratoma-surgery
MESH: *Craniosynostoses-complications; *Orbital-Neoplasms-congenital; *Teratoma-congenital
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 92052694
UD: 9202
SB: AIM
MEDLINE EXPRESS (R) 1991 54 of 55
TI: Advancement-onlay: an improved technique of fronto-orbital remodeling in craniosynostosis.
AU: Cohen-SR; Kawamoto-HK Jr; Burstein-F; Peacock-WJ
AD: Section of Plastic and Reconstructive Surgery, University of Michigan, Ann Arbor 48109-0340.
SO: Childs-Nerv-Syst. 1991 Sep; 7(5): 264-71
ISSN: 0256-7040
PY: 1991
LA: ENGLISH
CP: GERMANY
AB: Eighteen patients with nonsyndromic craniosynostosis underwent fronto-orbital remodeling with an advancement-onlay technique. The mean age of the infants was 5 months (range = 2-11 months) when the procedure was performed for the following indications: unilateral coronal synostosis (n = 10); bilateral coronal synostosis (n = 3); metopic synostosis (n = 2); and multiple craniosynostoses (n = 3). The technique consists of (1) unilateral or bifrontal craniotomy, (2) superior orbital rim recontouring and advancement, and (3) frontal bone graft rotation and onlay. Posteriorly, the frontal bone graft is left "floating," while anteriorly, rigid fixation with microplates and screws has supplanted wire osteosynthesis. The use of rigid fixation prevents uncontrolled "float" of the forehead and eliminates the need for temporal struts. Follow-up time ranged from 6 to 60 months (mean = 2.6 years). There were no serious postoperative complications. Surgical results were good to excellent in 94% of cases and poor to fair in 6%. Only 1 patient with a Kleeblattschadel deformity required major revision, while another patient with trigonocephaly underwent a minor, extracranial recontouring procedure. Supraorbital rim and/or forehead recession suggestive of relapse or initial inadequacy of anterior projection occurred in 3 patients (17%). Residual, mild contour abnormalities of the forehead and/or temporal regions were found in 5 cases. To date, no gross disturbances in craniofacial growth related to our method of rigid fixation have been observed and no clinically detectable resynostosis has occurred.
MESH: Follow-Up-Studies; Infant-; Neurosurgery-methods; Postoperative-Complications; Prognosis-
MESH: *Craniosynostoses-surgery; *Frontal-Bone-surgery; *Orbit-surgery
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 92034802
UD: 9202
MEDLINE EXPRESS (R) 1991 55 of 55
TI: Steady-state lumbar infusion tests in the management of children with craniosynostosis.
AU: Lundar-T; Nornes-H
AD: Department of Neurosurgery, National Hospital, University of Oslo, Norway.
SO: Childs-Nerv-Syst. 1991 Feb; 7(1): 31-3
ISSN: 0256-7040
PY: 1991
LA: ENGLISH
CP: GERMANY
AB: Sixty lumbar steady-state infusion tests were used as a guideline in the management of 30 children with craniosynostosis during a 3-year period. The primary decompressive procedure was performed during the same anesthetic period and was made more extensive in cases with pathological outflow resistance (Ro) values. In 11 children with scaphocephaly the test revealed normal to moderately increased cerebrospinal fluid (CSF) Ro. In 6 children with oxycephaly, 4 with trigonocephaly or combined forms, especially in 7 children with syndromic forms, the need for decompressive surgery was usually more obvious. Also, many of these demonstrated severely increased CSF outflow resistance (above 12 mmHg/ml per min). Spinal infusion tests were particularly helpful in the management of severe syndromic or familial cases where the indication for repeat or further extensive decompression was sometimes difficult to assess on clinical and radiological grounds.
MESH: Child,-Preschool; Craniosynostoses-surgery; Infant-; Monitoring,-Physiologic
MESH: *Cerebrospinal-Fluid-physiology; *Craniosynostoses-physiopathology; *Intracranial-Pressure
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 91275142
UD: 9110