Optic disc anomalies and frontonasal dysplasia
نویسندگان
چکیده
منابع مشابه
Optic disc anomalies and frontonasal dysplasia.
AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; abs...
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We report ten sporadic cases of Brazilian patients with facial midline defects, callosal agenesis, basal encephalocele, and ocular anomalies. This very rare cluster of anomalies has been well reported before. However, only until recently it is recognized as a syndrome belonging to frontonasal dysplasia spectrum. The ten cases confirm a distinct clinical entity and help to define the phenotype m...
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We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible...
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A 78-year-old man complained of bilateral visual acuity loss. Optical coherence tomography examination showed bilateral macular schisis with fluid accumulation in the external retinal layers without vitreous traction. Fundus examination and fluorescein angiography were normal in both eyes. Both eyes were treated by phacoemulsification, intraocular lens implantation, and vitrectomy without laser...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1998
ISSN: 0007-1161
DOI: 10.1136/bjo.82.3.290