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TITLE: Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.
AUTHOR(S): Bakri-SJ; Siker-D; Masaryk-T; Luciano-MG; Traboulsi-EI
ADDRESS OF AUTHOR: Department of Pediatric Ophthalmology and Strabismus, and Center for Genetic Eye Diseases, The Cleveland Clinic Foundation, Ohio, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ophthalmol. 1999 Mar; 127(3): 356-7
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. METHODS: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. Magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.
Record 2 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Delineation of two distinct 6p deletion syndromes.
AUTHOR(S): Davies-AF; Mirza-G; Sekhon-G; Turnpenny-P; Leroy-F; Speleman-F; Law-C; van-Regemorter-N; Vamos-E; Flinter-F; Ragoussis-J
ADDRESS OF AUTHOR: Division of Medical Molecular Genetics, The Guy's King's College Hospital Medical and Dental School, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1999 Jan; 104(1): 64-72
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.
Record 3 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Patients with CHARGE association: a model to study saccular function in the human.
AUTHOR(S): Guyot-JP; Vibert-D
ADDRESS OF AUTHOR: Department of Otolaryngology-Head and Neck Surgery, University Hospital, Geneva, Switzerland.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Otol-Rhinol-Laryngol. 1999 Feb; 108(2): 151-5
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.
Record 4 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: [CHARGE association]
AUTHOR(S): Costeira-MJ; Ruivo-I; Miguel-C; Ferreira-P; Almeida-A; Azevedo-I; Silva-G; Aguiar-A
ADDRESS OF AUTHOR: Servico de Pediatria, Hospital de S. Joao, Porto.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Med-Port. 1998 Nov; 11(11): 1013-6
LANGUAGE OF ARTICLE: PORTUGUESE; NON-ENGLISH
ABSTRACT: Posterior choanal atresia is a congenital malformation which can occur isolated or in combination to additional malformations. In CHARGE association the other anomalies are: coloboma, heart disease, retarded development/growth or central nervous system abnormalities, genital hypoplasia or hypogonadism and ear abnormalities or deafness. The authors present three cases of CHARGE association and they also review the clinical findings required for the diagnosis.
Record 5 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Retinal detachment in an infant with the ring chromosome 13 syndrome.
AUTHOR(S): Filous-A; Raskova-D; Kodet-R
ADDRESS OF AUTHOR: Department of Pediatric Ophthalmology, 2nd Medical Faculty, Charles University, Prague, Czech Republic.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Ophthalmol-Scand. 1998 Dec; 76(6): 739-41
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PURPOSE: To inform about retinal detachment in an infant with the ring chromosome 13 as a possible new feature of this syndrome. The finding is able to imitate retinoblastoma, which is closely connected to the deletion of 13q14. METHODS: We report on a girl with many congenital anomalies including hypoplasia of both optic discs and chorioretinal coloboma of the right eye. Chromosomal analysis revealed karyotype 46 XX with a ring chromosome 13. The patient was examined again at 15 months of age, where leukocoria was disclosed in the left eye, emerging from a retrolental greyish-white mass. Even though neither sonography nor CT showed a typical picture for retinoblastoma, this tumor could not be ruled out. Enucleation of the left eye was performed. The globe was then investigated histopathologically. RESULTS: No tumor was found in the removed eye. Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. CONCLUSIONS: The possibility of retinal detachment should be included into differential diagnoses in infants with ring 13 chromosome in cases with a non-specific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.
Record 6 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: [Goldenhar's syndrome: a case report]
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
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
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.
Record 7 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Genitourinary anomalies in the CHARGE association.
AUTHOR(S): Ragan-DC; Casale-AJ; Rink-RC; Cain-MP; Weaver-DD
ADDRESS OF AUTHOR: Department of Urology, Indiana University School of Medicine, Indianapolis, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Urol. 1999 Feb; 161(2): 622-5
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PURPOSE: We identified the incidence and types of genital and urinary anomalies, and established a plan for evaluating the urinary system in the CHARGE association. MATERIALS AND METHODS: We retrospectively reviewed the charts of 32 patients in whom the CHARGE association was diagnosed. RESULTS: Of the 32 patients identified 22 (69%) had genitourinary abnormalities. Genital anomalies, including micropenis, penile agenesis, hypospadias, chordee, cryptorchidism, a bifid scrotum, atresia of the uterus, cervix and vagina, and hypoplastic labia majora, labia minora and clitoris, were present in 18 patients (56%). Of the 24 patients who underwent renal ultrasound 10 (42%) were diagnosed with urinary tract anomalies including a solitary kidney, hydronephrosis, renal hypoplasia and duplex kidneys. Further evaluation revealed vesicoureteral reflux, neurogenic bladder secondary to spinal dysraphism, nephrolithiasis, ureteropelvic junction obstruction and a nonfunctioning upper pole in both duplex kidneys. CONCLUSIONS: There is a high incidence of genitourinary anomalies in the CHARGE association. Because of this high incidence of anomalies, patients with this condition should undergo a careful genitourinary evaluation, including renal and bladder ultrasound, and voiding cystourethrography screening.
Record 8 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Temporal bone CT findings in the CHARGE association.
AUTHOR(S): Admiraal-RJ; Joosten-FB; Huygen-PL
ADDRESS OF AUTHOR: Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands. R.Admiraal@kno.azn.nl
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Pediatr-Otorhinolaryngol. 1998 Oct 2; 45(2): 151-62
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Ten out of 20 cases with the CHARGE association and two CHARGE-like cases underwent temporal bone CT scanning and/or MRI: they all showed bilateral aplasia of the semicircular canals and obliteration of the oval windows. Vestibular examination was performed in nine CHARGE cases and the two CHARGE-like cases, which disclosed vestibular areflexia in all of them. Of the 16 evaluable CHARGE cases, eight had bilateral mixed hearing impairment, while eight had sensorineural hearing impairment which was bilateral in six and unilateral in two cases. Temporal bone CT scanning is therefore indicated in suspected CHARGE cases, even if they show normal hearing or a relatively good bone conduction threshold in one or both ears.
Record 9 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: The CHARGE association: the role of tracheotomy.
AUTHOR(S): Roger-G; Morisseau-Durand-MP; Van-Den-Abbeele-T; Nicollas-R; Triglia-JM; Narcy-P; Abadie-V; Manac'h-Y; Garabedian-EN
ADDRESS OF AUTHOR: Ear Nose and Throat Department, Hopital d'Enfants Armand Trousseau, Paris, France. orl.trousseau@trs.ap-hop-paris.fr
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Otolaryngol-Head-Neck-Surg. 1999 Jan; 125(1): 33-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: OBJECTIVES: To evaluate the need for a tracheotomy and its timing during the evolution of an association of malformations, including coloboma, heart defects, choanal atresia, developmental and growth retardation, genitourinary malformation, and ear anomalies (CHARGE association). DESIGN: Retrospective study from January 1988 through December 1997. SETTING: Four academic tertiary care centers. PATIENTS AND METHODS: Forty-five patients with CHARGE association having at least 3 cardinal malformations (growth retardation excluded) and review of the malformations and respiratory manifestations encountered. All the patients underwent endoscopic exploration on several occasions. We reviewed the nature and the timing of therapeutic interventions performed on the airway. RESULTS: Two patients died (one patient of septicemia, the other of unknown causes). Abnormalities of blood gas levels and/or sleep were found in 30 patients (67%), were responsible for cardiorespiratory arrest in 9 (20%), and required admission to the intensive care unit in 21 (47%). Pharyngolaryngeal anomalies leading to dyspnea (discoordinate pharyngolaryngomalacia, glossoptosis, retrognathia, laryngeal paralysis, cleft, stenosis, and difficult intubation) were found in 26 patients (58%). Tracheobronchial anomalies (esophagotracheal fistula, esophageal atresia, and tracheomalacia) were present in 18 patients (40%). Resection of the aryepiglottic folds was attempted 3 times, but without success. Tracheotomy was necessary in 13 patients (29%) at a median age of 2.4 months (mean duration, 25 months). Among these infants, the posterior nasal choanae were patent in 10 patients at the time of tracheotomy. Gastroesophageal reflux was encountered in 36 patients (80%). Prolonged enteral feeding was necessary in 21 patients (47%), with gastrostomy in 16 (of whom 9 needed a tracheotomy). These feeding difficulties and airway problems were highly correlated. CONCLUSIONS: We encountered multiple, complicated airway abnormalities. Resection of aryepiglottic folds was inadequate. Often, a tracheotomy could not be avoided in these patients, regardless of choanal patency. Tracheotomy needs to be performed early to avoid hypoxic events. In some selected patients, ventilation using bilevel positive airway pressure may be an alternative.
Record 10 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: [Colobomatous orbital cyst associated with microphthalmos. Apropos of a case]
AUTHOR(S): Ouazzani-BT; Laghmari-M; Karmane-A; Benchrif-Z; Jidane-M; Laamarti-A; Ibrahimy-W; Essakali-N; Mohcine-Z
ADDRESS OF AUTHOR: Service Ophtalmologie A, Hopital des specialites, Rabat, Maroc.
SOURCE (BIBLIOGRAPHIC CITATION): J-Fr-Ophtalmol. 1998 Nov; 21(9): 701-6
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
ABSTRACT: Colobomatous orbital cyst with microphthalmos is a rare anomaly occurring during embryogenesis. The authors describe a case of colobomatous orbital cyst with microphthalmos in a three-month-old child underlying the difficulties of clinical diagnosis and emphasizing the role of radiologic investigations. It is only the histopathologic study which allows the final diagnosis. From the informations given by this observation, the authors discuss the pathogenic, diagnostic, histopathologic and therapeutic characteristics of this disease.
Record 11 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Surgery of the eyelids.
AUTHOR(S): Brady-KM; Patrinely-JR; Soparkar-CN
ADDRESS OF AUTHOR: Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Plast-Surg. 1998 Oct; 25(4): 579-86, ix
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: This article reviews the most common pediatric oculoplastic conditions and addresses clinical evaluation as well as medical and surgical management. The complex issues of amblyopia and special considerations for eyelid surgery in children are discussed. A step-by-step approach is used in the treatment of many common pediatric oculoplastic conditions, including congenital blepharoptosis and lid margin defects. Surgical options are explored and clinical examples are provided.
Record 12 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome [letter]
AUTHOR(S): Balci-S; Kayikcioglu-A; Dagli-AS
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1998 Nov; 54(5): 440-2
LANGUAGE OF ARTICLE: ENGLISH
Record 13 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Clinical evaluation in isolated hypogonadotrophic hypogonadism (Kallmann syndrome).
AUTHOR(S): Dissaneevate-P; Warne-GL; Zacharin-MR
ADDRESS OF AUTHOR: Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Endocrinol-Metab. 1998 Sep-Oct; 11(5): 631-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: OBJECTIVE: To describe the clinical features, laboratory investigation and treatment of Kallmann syndrome. DESIGN: A retrospective study of patients treated in the Endocrine Clinic of the Royal Children's Hospital and St Vincent's Hospital, Melbourne, between 1984 and 1996. RESULTS: Eleven males and 5 females with Kallmann syndrome are described. Their ages at presentation ranged from one week to 21 years. Presenting symptoms were micropenis, small testes, anosmia and delayed puberty. Fifty-six percent (9/16) had a family history of either anosmia or infertility. The features of Kallmann syndrome are variable. We have described unilateral renal aplasia, coloboma of iris, deafness, midline anomalies, oculomotor apraxia and Moebius anomalad as features that were associated with Kallmann syndrome in our group of subjects. One patient diagnosed as having X-linked Kallmann syndrome has previously been shown to have a specific mutation in an intronic sequence adjacent to exon 6. Most patients showed low serum levels of basal gonadotrophins, testosterone or oestrogen, and had a poor response to LHRH stimulation, but two patients showed a pubertal response to LHRH stimulation, and may have a variant form of Kallmann syndrome. Treatment given to these patients included exogenous testosterone or oestrogen for induction of puberty, with appropriate pubertal progress occurring in each patient. CONCLUSION: The manifestations of Kallmann syndrome vary, depending upon the degree of LHRH deficiency. Therapy should combine exogenous sex hormone replacement and psychological support, with long-term follow-up to ensure maintenance of normal sexual function, normal bone mass and psychosocial outcome, with fertility induction when indicated.
Record 14 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
AUTHOR(S): Seeliger-MW; Biesalski-HK; Wissinger-B; Gollnick-H; Gielen-S; Frank-J; Beck-S; Zrenner-E
ADDRESS OF AUTHOR: University Eye Hospital, Department II, Tubingen, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Invest-Ophthalmol-Vis-Sci. 1999 Jan; 40(1): 3-11
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PURPOSE: To describe the phenotype caused by a retinol deficiency in a family with compound heterozygous missense mutations (Ile41Asn and Gly75Asp) in the gene for serum retinol binding protein (RBP). METHODS: The two affected sisters, 17 (BR) and 13 (MR) years old, were examined clinically and with perimetry, color vision tests, dark adaptometry, rod- and cone-isolated electroretinograms (ERGs), multifocal ERGs, electrooculograms (EOGs), and laboratory tests. RESULTS: There were no complaints besides night vision problems and no history of systemic disease. Visual acuity was reduced to 20/40 (BR) and 20/25 (MR). Anterior segments were normal except for a discrete iris coloboma. Both patients showed a typical "fundus xerophthalmicus," featuring a progressed atrophy of the retinal pigment epithelium. Dark adaptation thresholds were elevated. In the scotopic ERG, only reduced mixed responses were recordable. The photopic ERG was reduced in BR and normal in MR; implicit times were highly (BR) to slightly (MR) elevated. There was no (BR) to little (MR) light reaction in the EOG. All-trans retinol levels were 0.19 microM and 0.18 microM (normal range, 0.7-1.5 microM) for BR and MR, respectively, and did not increase in a dose-response test. RBP was below detection threshold, and retinyl esters were normal. CONCLUSIONS: Both affected siblings had no detectable serum RBP, one sixth of normal retinol levels, and normal retinyl esters. The retinal pigment epithelium was severely affected, but besides acne there were no changes to other organs. This gives evidence for an alternative tissue source of vitamin A, presumably retinyl esters from chylomicron remnants. The normal retinol levels in the tear fluid explain the lack of xerophthalmia. However, considering the role of RBP in the tear fluid and, during development, in the yolk sac there is also evidence that there are organ-specific RBP forms not affected by the genetic defect.
Record 15 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Collie eye anomaly in the Lancashire heeler.
AUTHOR(S): Bedford-PG
ADDRESS OF AUTHOR: Department of Small Animal Medicine and Surgery, Royal Veterinary College, Hatfield, Hertfordshire.
SOURCE (BIBLIOGRAPHIC CITATION): Vet-Rec. 1998 Sep 26; 143(13): 354-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: An ocular disease ophthalmoscopically identical to collie eye anomaly (CEA) is described in the Lancashire heeler breed of terrier. Survey work completed in 1996 demonstrated a significant incidence of 13.7 per cent. The clinical findings together with initial pedigree analysis support the accepted view that, in the traditionally affected breeds, CEA is a true pleiomorph which segregates as a recessive Mendelian trait. Alternative hypothesis speculates that the several lesions ascribed to CEA may occur as separate congenital disease entities, each with its own mode of inheritance. However, the combination of bilateral chloroidal hypoplasia, papillary or peripapillary coloboma and neuroretinal non-attachment in a non-collie breed tends to confirm that these three lesions are indeed individual parts of the one disease. The established appearance of CEA outwith the collie breeds dictates that the nomenclature for this disease is now somewhat inappropriate and that an alternative name should be considered. It is suggested that the term 'congenital posterior segment anomaly' could be adopted.
Record 16 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
AUTHOR(S): Cunliffe-HE; McNoe-LA; Ward-TA; Devriendt-K; Brunner-HG; Eccles-MR
ADDRESS OF AUTHOR: Department of Biochemistry, University of Otago, Dunedin, New Zealand.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1998 Oct; 35(10): 806-12
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.
Record 17 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Isolated Tessier no. 1 cleft of the nose.
AUTHOR(S): Agrawal-K; Panda-KN; Prasad-S
ADDRESS OF AUTHOR: Department of Plastic Surgery, Jawaharlal Institute of Post-graduate Medical Education and Research, Pondicherry, India.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Plast-Surg. 1998 Sep; 41(3): 311-3
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We report 3 patients with isolated cleft or coloboma of the nose--an extremely rare occurrence. This entity belongs to no. 1 of Tessier's classification of craniofacial clefts. Excessive separation of the medial and lateral nasal processes of the frontonasal process may be the genesis of this condition. Management should address two points: the cleft and the associated malformations of the cartilaginous nasal framework.
Record 18 of 47 in MEDLINE EXPRESS (R) 1999/01-1999/05
TITLE: Otological manifestations of CHARGE association.
AUTHOR(S): Dhooge-I; Lemmerling-M; Lagache-M; Standaert-L; Govaert-P; Mortier-G
ADDRESS OF AUTHOR: Department of Otolaryngology, University Hospital Ghent, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Otol-Rhinol-Laryngol. 1998 Nov; 107(11 Pt 1): 935-41
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: The combined findings of abnormalities of the incus and stapes, absence of the oval window, absence of the stapedius muscle (with absent pyramidal eminence and tympanic sinus in most cases), and abnormalities of different parts of the inner ear (dysplastic cochlea, hypoplastic or dysplastic vestibule, and absent semicircular canals) are characteristic of the CHARGE association. Computed tomography and magnetic resonance imaging using 1-mm-thick contiguous slices proved useful in demonstrating the broad spectrum of temporal bone abnormalities in patients with the CHARGE association.
Record 19 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Pseudodoubling of the optic disc.
AUTHOR(S): Barboni-P; Deluigi-M; De-Bonis-C; Monetti-G; Savini-G; Zanini-M
ADDRESS OF AUTHOR: Centro Salus, Bologna, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 1998 Oct; 116(10): 1400-1
LANGUAGE OF ARTICLE: ENGLISH
Record 20 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Nevus sebaceus of Jadassohn associated with macro optic discs and conjunctival choristoma [letter]
AUTHOR(S): Kruse-FE; Rohrschneider-K; Burk-RO; Volcker-HE
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Ophthalmol. 1998 Oct; 116(10): 1379-81
LANGUAGE OF ARTICLE: ENGLISH
Record 21 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: The management of retinal detachments associated with choroidal colobomas by vitrectomy with cyanoacrylate retinopexy.
AUTHOR(S): Hotta-K; Hirakata-A; Hida-T
ADDRESS OF AUTHOR: Department of Ophthalmology, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Ophthalmol. 1998 Jul-Aug; 42(4): 323-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: The techniques used and the outcome in eyes treated for retinal detachment associated with choroidal coloboma are described. We reviewed the medical reports on five eyes of five patients with retinal detachment associated with choroidal coloboma who underwent vitrectomy. Retinal breaks were identified at the margin of or within the coloboma and the retina was successfully reattached by vitrectomy and cyanoacrylate retinopexy in four of the five eyes. The remaining one eye, with no visible retinal break both before and during surgery, also underwent cyanoacrylate retinopexy at regions suspected of retinal break, and was successfully reattached. In four eyes (80%) the vision showed improvement and had a visual acuity of 20/100 or better after surgery. None of the eyes required silicone oil tamponade or endophotocoagulation around the disc or at the papillomacular bundle. For the management of retinal detachment associated with choroidal coloboma, cyanoacrylate retinopexy is the method of choice, providing adequate chorioretinal adhesion and satisfactory visual outcome.
Record 22 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
AUTHOR(S): Devriendt-K; Matthijs-G; Van-Damme-B; Van-Caesbroeck-D; Eccles-M; Vanrenterghem-Y; Fryns-JP; Leys-A
ADDRESS OF AUTHOR: Center for Human Genetics, University of Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1998 Aug; 103(2): 149-53
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We present a family with autosomal-dominant inheritance of renal insufficiency caused by renal hypoplasia in six individuals. In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. A heterozygous missense mutation in the PAX2 gene causing a Gly75 to Ser substitution was present in all affected individuals. A second, unrelated patient presented with ocular complaints related to optic disk dysplasia, and had a history of vesico-ureteral reflux. A heterozygous hexanucleotide duplication in the PAX2 gene was detected leading to the duplication of GluThr at positions 74 and 75. The mutations in these two families are the first mutations in the PAX2 gene that do not lead to a truncated protein. Mechanistically, these mutations are expected to result in abnormal folding of the PAX2 protein. These observations further expand the spectrum of clinical features associated with PAX2 mutations, and suggest that a distinct genetic disorder can be identified in patients with renal dysplasia through a careful eye examination. As the ocular manifestations in this syndrome are variable anomalies of retinal and optic disk dysplasia, we prefer the term "papillo-renal syndrome".
Record 23 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [11th Annual Session of the Retinologic Society in Dusseldorf, 3-4 July 1998]
SOURCE (BIBLIOGRAPHIC CITATION): Klin-Monatsbl-Augenheilkd. 1998; 213 Suppl 1: 1-16
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
Record 24 of 47 in MEDLINE EXPRESS (R) 1996-1998
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
LANGUAGE OF ARTICLE: ENGLISH
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.
Record 25 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.
AUTHOR(S): al-Gazali-LI
ADDRESS OF AUTHOR: Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, al-Ain, United Arab Emirates.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Dysmorphol. 1998 Jul; 7(3): 201-3
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents a previously undescribed autosomal recessive syndrome.
Record 26 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Eye malformations associated with treatment with carbamazepine during pregnancy.
AUTHOR(S): Sutcliffe-AG; Jones-RB; Woodruff-G
ADDRESS OF AUTHOR: Department of Pediatrics, Moorfields Eye Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmic-Genet. 1998 Jun; 19(2): 59-62
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Four children are presented and their eye malformations described. One girl had bilateral anophthalmos, a boy and a girl had bilateral severe microphthalmos, and a boy had a unilateral optic disc coloboma. The mothers of all for children were treated with carbamazepine during pregnancy. The teratogenic effect of carbamazepine and its likely role in the genesis of the eye malformations is discussed.
Record 27 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Delleman syndrome: anesthetic implications.
AUTHOR(S): Sadhasivam-S; Subramaniam-R
ADDRESS OF AUTHOR: Department of Anesthesiology and Intensive Care, All India Institute of Medical Sciences, New Delhi.
SOURCE (BIBLIOGRAPHIC CITATION): Anesth-Analg. 1998 Sep; 87(3): 553-5
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: An infant with oculocerebrocutaneous (Delleman) syndrome (1), only 26 cases of which have been reported (2), presented with focal alopecia of scalp, periorbital skin appendages, hypertrophy of the skin (Fig. 1A), left-sided orbital cyst, lid coloboma, cleft palate (Fig. 1B), neonatal seizures, cerebral hemiatrophy, multiple intracranial cystic spaces, and enlarged lateral ventricles. The anomalies often require multiple anesthetics for examination of the eye, drainage of the orbital cyst, repair of lid coloboma, enucleation of the eye, excision of skin tags, and repair of cleft palate. Although this infant's perioperative course was uneventful, he had significant preoperative problems, such as neonatal seizures and an episode of aspiration pneumonia. Because the Delleman syndrome is rare, this case is presented to illustrate possible anesthetic implications of the disease.
Record 28 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Deletion in chromosome region 22q11 in a child with CHARGE association.
AUTHOR(S): Devriendt-K; Swillen-A; Fryns-JP
ADDRESS OF AUTHOR: Center for Human Genetics, University Hospital Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1998 May; 53(5): 408-10
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We present a female child with features of the CHARGE association, including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. A submicroscopic deletion in chromsome 22q11 was detected by means of fluorescence in situ hybridization (FISH) using probe DO832. The clinical features in this child compromise characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion-duplication.
Record 29 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Vitrectomy and silicone oil injection in pediatric patients.
AUTHOR(S): Moisseiev-J; Vidne-O; Treister-G
ADDRESS OF AUTHOR: Goldschleger Eye Institute, The Sheba Medical Center, Tel Hashomer, Israel.
SOURCE (BIBLIOGRAPHIC CITATION): Retina. 1998; 18(3): 221-7
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: OBJECTIVE: To determine the functional and anatomic results of vitrectomy with silicone oil injection in complicated retinal detachments in children. DESIGN: A retrospective review of all records of children aged 15 years or younger who underwent vitrectomy with silicone oil injection between 1985 and 1994 in the Goldschleger eye institute. RESULTS: Twenty-eight eyes of 27 patients were included in the series, with a mean follow-up time of 24 months. The underlying pathologies included penetrating injury (11 eyes), high myopia (8 eyes), choroidal coloboma (2 eyes), retinopathy of prematurity (2 eyes), and various other pathologies (5 eyes). At the end of the follow-up, complete or partial anatomic success was obtained in 9 eyes (32%) and 3 eyes (10%), respectively. The final visual acuity was 20/400 or better in 5 eyes (18%) and hand motions or less in 19 eyes (68%). The visual acuity could not be determined in 3 eyes due to the age of the patients, and in 1 eye due to mental retardation. The worst results occurred in the perforating injury group. The usual complications associated with silicone oil occurred frequently. CONCLUSIONS: Satisfactory anatomic and functional results were obtained in a minority of the eyes included in our series. The grave prognosis was determined by the devastating nature of the external injury in the trauma cases and the severe vitreoretinal pathology in the other eyes.
Record 30 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Chorioretinal colobomas in a pediatric population.
AUTHOR(S): Daufenbach-DR; Ruttum-MS; Pulido-JS; Keech-RV
ADDRESS OF AUTHOR: Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmology. 1998 Aug; 105(8): 1455-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: OBJECTIVE: The purpose of the study was to determine the prevalence of retinal detachment and associated anomalies in pediatric patients with chorioretinal colobomas. DESIGN: Observational case series. PARTICIPANTS: Forty-eight patients (86 eyes) of patients with chorioretinal colobomas followed in two academic pediatric eye clinics were reviewed. MAIN OUTCOME MEASURES: The frequency of associated systemic abnormalities and the prevalence of retinal or choroidal detachment during the follow-up period. RESULTS: Forty-eight patients (86 eyes) were identified; ocular involvement ranged from small colobomas with isolated chorioretinal involvement to large colobomas affecting the iris, choroid, retina, and optic nerve. The mean ages at initial and most recent examinations were 27 and 100 months, respectively. Follow-up averaged 6 years, 1 month. Six retinal detachments were found in four patients. Patient ages at the time of detection of retinal detachment were 5 months, 29 months, 10 years, and 15 years. A choroidal detachment was found in a child at age 9 years. The combined prevalence of retinal or choroidal detachment was 10.4% of patients and 8.1% of affected eyes. Thirteen eyes were microphthalmic, and six had microcornea. Eighteen patients (38%) had other systemic abnormalities. CONCLUSIONS: The 8.1% prevalence of retinal or choroidal detachment among eyes in our series was much smaller than previously cited estimates of 23% to 43%. The higher figures probably reflect a referral bias toward patients with vitreoretinal problems and an older patient population. Because of the acknowledged difficulty of managing retinal detachments in patients with chorioretinal colobomas, emphasis should be directed toward early detection and possible prophylactic therapy. The high proportion of patients who have associated systemic abnormalities indicates the need for thorough evaluation of these children by other pediatric specialists.
Record 31 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: The CHARGE association in a newborn infant.
AUTHOR(S): Akisu-M; Ozkinay-F; Ozyurek-R; Kucuktas-A; Kultursay-N
ADDRESS OF AUTHOR: Ege University Faculty of Medicine, Izmir.
SOURCE (BIBLIOGRAPHIC CITATION): Turk-J-Pediatr. 1998 Apr-Jun; 40(2): 283-7
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: CHARGE association is the nonrandom association of congenital anomalies, including choanal atresia, coloboma, heart defects, retardation of growth and development, genital hypoplasia and ear abnormalities. We report a male newborn infant with CHARGE association. Other congenital abnormalities include micrognathia, high-arched palate, facial asymmetry, broad nasal bridge, hypertelorism, asymmetric eye size, and left microphthalmia. On radiologic examination, hemivertebrae were detected on the thoracal vertebrae. Although both autosomal and recessive transmission have been reported, most cases of CHARGE association have been sporadic (karyotype analysis is generally reported to be normal as in our patient). Transmission and recurrence risk of this association are not known. The presence of choanal atresia and/or coloboma must alert the clinician to search for other abnormalities for diagnosis of CHARGE association.
Record 32 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: CHARGE syndrome: report of 47 cases and review.
AUTHOR(S): Tellier-AL; Cormier-Daire-V; Abadie-V; Amiel-J; Sigaudy-S; Bonnet-D; de-Lonlay-Debeney-P; Morrisseau-Durand-MP; Hubert-P; Michel-JL; Jan-D; Dollfus-H; Baumann-C; Labrune-P; Lacombe-D; Philip-N; LeMerrer-M; Briard-ML; Munnich-A; Lyonnet-S
ADDRESS OF AUTHOR: Departement de Genetique et Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERM U-393, Hopital Necker-Enfants-Malades, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Apr 13; 76(5): 402-9
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.
Record 33 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Chondrodysplasia punctata with retinal colobomas: radiographic findings.
AUTHOR(S): Herman-TE
ADDRESS OF AUTHOR: Mallinckrodt Institute of Radiology, St. Louis Children's Hospital, MO 63110, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Perinatol. 1998 Mar-Apr; 18(2): 152-5
LANGUAGE OF ARTICLE: ENGLISH
Record 34 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.
AUTHOR(S): Nagai-K; Nagao-M; Nagao-M; Yanai-S; Minagawa-K; Takahashi-Y; Takekoshi-Y; Ishizaka-A; Matsuzono-Y; Kobayashi-O; Itagaki-T
ADDRESS OF AUTHOR: Department of Paediatrics, National Sanatorium Otaru Hospital, Hokkaido, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1998 Apr; 35(4): 342-4
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive.
Record 35 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: CHARGE association: histopathological report of two cases and a review.
AUTHOR(S): Hayashi-N; Valdes-Dapena-M; Green-WR
ADDRESS OF AUTHOR: Eye Pathology Laboratory, Wilmer Ophthalmological Institute, Baltimore, Maryland, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1998 Mar-Apr; 35(2): 100-6
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: BACKGROUND: The CHARGE association (C = coloboma, H = heart disease, A = atresia or stenosis of the choanae, R = retarded growth and development or CNS anomalies, G = genital hypoplasia, and E = ear anomalies or deafness) is a rare, recently well-recognized clinical study. The ophthalmic abnormalities have been described in numerous reports, but the ocular histopathologic findings have not been presented in detail. METHODS: We conducted gross and microscopic studies of eyes of two patients with the CHARGE association obtained postmortem. RESULTS: The eyes in one case had a small, symmetrical, inferior nasal coloboma of the choroid. In the other case, extensive inferior nasal colobomas of the iris, ciliary body, and choroid with retinal dysplasia, ectopic retinal/glial tissue in the sclera and hypoplasia of the optic nerve head were present. CONCLUSION: We document the histopathological features of eyes of two subjects with the CHARGE association. The abnormalities of these eyes were typical ocular colobomas presumably resulting from the failure of complete closure of the optic fissure.
Record 36 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Endoresection of choroidal melanoma [see comments]
AUTHOR(S): Damato-B; Groenewald-C; McGalliard-J; Wong-D
ADDRESS OF AUTHOR: Ocular Oncology Service, St Paul's Eye Unit, Royal Liverpool University Hospital.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Ophthalmol. 1998 Mar; 82(3): 213-8
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: AIMS: The results of 52 endoresections for choroidal melanoma are reported. METHODS: The current technique involves vitrectomy, retinal incision over or peripheral to the tumour, haemostasis by raising intraocular pressure and by moderate hypotensive anaesthesia, choroidal incision around tumour, endoresection with vitrector, endodiathermy to bleeding points and residual tumour, fluid-air exchange to reattach retina, endolaser to achieve retinal adhesion around the coloboma and destroy residual tumour in the sclera, silicone oil injection with removal after 12 weeks, cryotherapy to the sclerotomies, and adjunctive ruthenium plaque radiotherapy in selected cases. RESULTS: Patients receiving primary endoresection had a mean age of 53 years, a mean largest basal tumour diameter of 8.2 mm, and a mean tumour thickness of 3.9 mm. 40 tumours extended to within 2 disc diameters of the optic disc, with 17 involving disc. Follow up ranged from 40 days to 7 years (median 20 months). At the last visit, 90% of eyes were retained, with vision of 6/6-6/12 (two), 6/18-6/36 (three), 6/60 to counting fingers (18), hand movements (nine), and light perception (four). The main complications were retinal detachment in 16 and cataract in 25. Secondary endoresection (11) was performed after plaque radiotherapy (four), photocoagulation (four), trans-scleral local resection (two), and proton beam radiotherapy (one), with retention of the eye in nine cases. By the close of the study, no patients developed definite local tumour recurrence but one died of metastatic disease 41 months postoperatively. CONCLUSION: Depending on tumour location, endoresection may conserve central vision or temporal field when radiotherapy would be expected to cause optic neuropathy. Longer follow up is necessary to establish the efficacy of tumour control.
Record 37 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Characteristics of retinal detachment in eyes with choroidal colobomas]
AUTHOR(S): Hotta-K; Hirakata-A; Shinoda-K; Miki-D; Hida-T
ADDRESS OF AUTHOR: Department of Ophthalmology, Kyorin University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nippon-Ganka-Gakkai-Zasshi. 1998 Mar; 102(3): 207-14
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
ABSTRACT: We reviewed 6 eyes of 6 patients (1 male and 5 females) with retinal detachment associated with choroidal coloboma. Three of these 6 eyes had visible retinal breaks within or at the margin of the coloboma. In one eye, no retinal breaks were noted before or during vitreous surgery, and shallow retinal detachment was localized in the posterior fundus. One eye with bullous retinal detachment with retinal breaks within the coloboma had been having serous retinal detachment localized in the nasal area close to the optic nerve head. In all of these five eyes; vitrectomy, relaxing retinotomy inside the coloboma close to its edges, and cyanoacrylate retinopexy resulted in successful reattachment of the retina. Schisis-like separation similar to that in pit-macular syndrome was noted in the posterior retinal in one eye which had no visible retinal break. Non-rhegmatogenous retinal detachment may exist in association with choroidal colobomas.
Record 38 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Surgical management of retinal detachments related to coloboma of the choroid.
AUTHOR(S): Gopal-L; Badrinath-SS; Sharma-T; Parikh-SN; Shanmugam-MS; Bhende-PS; Agrawal-R; Deshpande-DA
ADDRESS OF AUTHOR: Sankara Nethralaya, Medical and Vision Research Foundations, Chennai, India.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmology. 1998 May; 105(5): 804-9
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: OBJECTIVE: This study aimed to develop a rationale for the management of retinal detachments related to choroidal coloboma and to study the outcome of their management. DESIGN: The study design was a retrospective study. PARTICIPANTS: A total of 85 eyes of 81 patients with retinal detachments related to coloboma of the choroid participated. INTERVENTION: All eyes underwent pars plana vitrectomy with internal tamponade using silicone oil (80 eyes) or perfluropropane gas (5 eyes). Behavior of the retina on fluid-air exchange was used to guide the further steps of surgery. Endolaser was performed along the coloboma border. Silicone oil was removed in 80% of eyes. The main outcome measures were retinal reattachment and visual recovery. RESULTS: Recurrent retinal detachment occurred in 16.3% of silicone oil-filled eyes and 60% of gas-filled eyes. After silicone oil removal, 15.6% of eyes had recurrent retinal detachment. After a mean follow-up of 13.4 months, 81.2% of eyes had attached retina and 69.4% recovered equal to or better than 10/200 visual acuity. CONCLUSION: Retinal detachment secondary to coloboma of choroid is treated best by pars plana vitrectomy along with silicone oil tamponade. Gas tamponade has limited indications. Clinical evaluation of the extent of retinal detachment within the colobomatous area and the behavior of the retina on fluid-air exchange help the authors understand the pathogenesis of the retinal detachment and plan a rational therapy.
Record 39 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Choroidal coloboma in two members of a family.
AUTHOR(S): Eida-H; Ohira-A; Amemiya-T
ADDRESS OF AUTHOR: Department of Ophthalmology, Nagasaki University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Ophthalmologica. 1998; 212(3): 208-11
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: A family with choroidal coloboma is reported. A 43-year-old Japanese woman with choroidal coloboma including the optic disk and extending to the inferior half of the fundus in both eyes had horizontal nystagmus, microcornea and mild cortical cataract in both eyes. Her 40-year-old younger sister had choroidal colobomas in both eyes and also a horizontal nystagmus, microcornea in both eyes and a mature cataract in the left eye. They had no systemic abnormalities. Their parents and 2 younger sisters showed neither ocular nor systemic abnormalities. Choroidal coloboma with iris coloboma has been reported frequently, but familial choroidal coloboma without involvement of the iris and with no systemic abnormalities is rare.
Record 40 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.
AUTHOR(S): Pallotta-R; Fusilli-P; Sabatino-G; Verrotti-A; Chiarelli-F
ADDRESS OF AUTHOR: Center for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G. D'Annunzio University, Chieti, Italy. pallotta@unich.it
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Mar 19; 76(3): 252-4
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.
Record 41 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie.
AUTHOR(S): Hildebrandt-F; Nothwang-HG; Vossmerbaumer-U; Springer-C; Strahm-B; Hoppe-B; Keuth-B; Fuchshuber-A; Querfeld-U; Neuhaus-TJ; Brandis-M
ADDRESS OF AUTHOR: University Children's Hospital, Freiburg University, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Nephrol. 1998 Jan; 12(1): 16-9
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Joubert syndrome type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, polydactyly, and neonatal tachypnea. In isolated autosomal recessive NPH type 1 (NPH1), homozygous deletions have been described as causative in more than 80% of patients. Since different combinations of the extrarenal symptoms with NPH occur in JSB, a contiguous gene deletion syndrome in the NPH1 genetic region would seem a highly likely cause for JSB. We therefore examined 11 families with JSB for the presence of extended deletions at the NPH1 locus. Genomic DNA was examined using four consecutive polymerase chain reaction (PCR) markers that are deleted in NPH1 and three PCR makers flanking the NPH1 deletion. In all seven markers examined, there was no homozygous deletion detected in any of the 11 JSB families studied. Since these markers saturate the NPH1 deletion region at high density, this finding excludes the presence of large homozygous deletions of the NPH1 region in these JSB families, making it unlikely that deletions of the NPH1 region are a primary cause for JSB.
Record 42 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Imaging findings in COACH syndrome.
AUTHOR(S): Barzilai-M; Ish-Shalom-N; Lerner-A; Iancu-TC
ADDRESS OF AUTHOR: Ultrasound Unit, Carmel Medical Center, Haifa, Israel.
SOURCE (BIBLIOGRAPHIC CITATION): AJR-Am-J-Roentgenol. 1998 Apr; 170(4): 1081-2
LANGUAGE OF ARTICLE: ENGLISH
Record 43 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.
AUTHOR(S): Bermejo-E; Martinez-Frias-ML
ADDRESS OF AUTHOR: ECEMC, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Feb 17; 75(5): 497-504
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: We analyzed Spanish Collaborative Study of Congenital Malformations (ECEMC) data on a series of 1,124,654 consecutive births to study congenital eye malformations from an epidemiological standpoint. We studied their frequencies as well as some causal and clinical aspects. Four hundred fourteen infants had eye malformations, for an overall prevalence of 3.68/10,000 newborns. Most frequent were: anophthalmia/microphthalmia (21.34/100,000), congenital cataract (6.31), coloboma (4.89), corneal opacity (3.11), and congenital glaucoma (2.85). In our data, the tendency of eye malformations to be associated with other congenital abnormalities is evident (only 21.01% of cases were isolated). Eye defects are heterogeneous, since we have observed them in clinical patterns with all modes of inheritance or caused by different environmental agents. Chromosomal syndromes represent 60% of total syndromes, followed by syndromes of autosomal-recessive inheritance (15%), environmental syndromes (10%), autosomal-dominant syndromes (5.83%), and other types which have a lower frequency. Regarding defects associated with eye malformations, most frequent are limb anomalies (affecting 59.3% of multiply malformed cases), auricular/facial (47.1%), central nervous system (42.5%), osteomuscular excluding limbs (42.2%), genital defects (30.6%), oral clefts (29.4%), and the rest of the body systems, which are less frequent. Using the method outlined by Prieto and Martinez-Frias [1996: Am J Med Genet 62:61-67], it was demonstrated that the association of coloboma and anophthalmia/microphthalmia was specific, as was the combination of cataract and anophthalmia/microphthalmia, and that of anophthalmia/microphthalmia with holoprosencephaly. From these statistical associations some pathogenetic relationships in human embryos can be inferred, supporting several previously proposed mechanisms.
Record 44 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
AUTHOR(S): Dollfus-H; Joanny-Flinois-O; Doco-Fenzy-M; Veyre-L; Joanny-Flinois-L; Khoury-M; Jonveaux-P; Abitbol-M; Dufier-JL
ADDRESS OF AUTHOR: Service d'Ophtalmologie, Hopital Necker-Enfants Malades, France.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ophthalmol. 1998 Mar; 125(3): 397-9
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.
Record 45 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Chorioretinal coloboma with hypoplasia of the inferior rectus muscle in a microphthalmic eye.
AUTHOR(S): Block-RL; Weseley-AC
ADDRESS OF AUTHOR: Department of Ophthalmology, New York Eye and Ear Infirmary, NY 10003, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1998 Jan-Feb; 35(1): 53-4
LANGUAGE OF ARTICLE: ENGLISH
Record 46 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis.
AUTHOR(S): Lo-FS; Lee-YJ; Lin-SP; Shen-EY; Huang-JK; Lee-KS
ADDRESS OF AUTHOR: Department of Paediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1998 Jan; 157(1): 39-44
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of combined SMCI and CNPAS, obtained from the literature. Of the patients with SMCI, 69% had short stature, 48% growth hormone deficiency or hypopituitarism, 23% pituitary absence or hypoplasia, and 17% had del (18p-) or r(18). Of the patients with CNPAS, 63% had SMCI, 75% were short, 43% had hypopituitarism or growth hormone deficiency, 36% had pituitary or CNS anomaly, and 33% had del (18p), r(18), or del (13q). CONCLUSIONS: Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis can be a diagnostic clue to pituitary hypofunction, CNS, ophthalmological and cytogenic anomalies.
Record 47 of 47 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Effects of PAX2 expression in a human fetal kidney (HEK293) cell line.
AUTHOR(S): Torban-E; Goodyer-PR
ADDRESS OF AUTHOR: Department of Pediatrics, McGill University, Montreal Children's Hospital, Quebec, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Biochim-Biophys-Acta. 1998 Jan 2; 1401(1): 53-62
LANGUAGE OF ARTICLE: ENGLISH
ABSTRACT: PAX2, a member of the "paired-box" family of homeotic genes, is a nuclear transcription factor expressed in the early stages of nephrogenesis by induced blastemal cells as they progress from mesenchymal condensates to the "S-shaped" stage and also by the ureteric bud. Spontaneous mutations in one copy of PAX2 in humans causes a syndrome of proteinuric renal failure and coloboma of the eye (P. Sanyanusin et al., Nat. Genet. 9 (1995) 358-363); transgenic mice with disruption of the PAX2 gene are anephric (M. Torres et al., Development 121 (1995) 4057-4067. Although PAX2 is clearly critical for normal kidney development, its direct effects on kidney cell phenotype are unknown. To address this issue, we developed stable transfectants of the HEK293 human fetal kidney epithelial cell line expressing human PAX2 protein under tetracycline-regulatable promoter. In these cells, PAX2 had no effect on the proliferative rate, but increased the expression of the Wilms' tumor gene (2-fold) and E-cadherin (7-fold). PAX2 had a strong inhibitory effect on vimentin; vimentin/GAPDH mRNA ratio was suppressed to 8% of control whereas cytokeratin-18/GAPDH mRNA ratio was unchanged. During nephrogenesis, loss of vimentin and onset of low-level WT1 and E-cadherin expression occur in mesenchymal condensates. Our observations suggest that these events may be, in part, regulated by PAX2.
nsates to the "S-shaped" stage and also by the ureteric bud. Spontaneous mutations in one copy of PAX2 in humans causes a syndrome of proteinuric renal failure and coloboma of the eye (P. Sanyanusin et al., Nat. Genet. 9 (1995) 358-363); transgenic mice with disruption of the PAX2 gene are anephric (M. Torres et al., Development 121 (1995) 4057-4067. Although PAX2 is clearly critical for normal kidney development, its direct effects on kidney cell phenotype are unknown. To address this issue, we developed stable transfectants of the HEK293 human fetal kidney epithelial cell line expressing human PAX2 protein under tetracycline-regulatable promoter. In these cells, PAX2 had no effect on the proliferative rate, but increased the expression of the Wilms' tumor gene (2-fold) and E-cadherin (7-fold). PAX2 had a strong inhibitory effect on vimentin; vimentin/GAPDH mRNA ratio was suppressed to 8% of control whereas cytokeratin-18/GAPDH mRNA ratio was unchanged. During nephrogenesis, loss of vimentin and onset of low-level WT1 and E-cadherin expression occur in mesenchymal condensates. Our observations suggest that these events may be, in part, regulated by PAX2.