Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. Research Abstract Details 

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Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. Abstract Text:

Mehryar Taban,Dina S A Memoracion-Peralta,Heng Wang,Lihadh I Al-Gazali,Elias I Traboulsi,Mehryar Taban,Dina S A Memoracion-Peralta,Heng Wang,Lihadh I Al-Gazali,Elias I Traboulsi,

PURPOSE: To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases. METHODS: Retrospective case series and literature review. RESULTS: Cohen syndrome is a rare autosomal-recessive condition with about 136 reported cases. The typical phenotype of Cohen syndrome is variable and includes mild to severe psychomotor retardation, microcephaly, a cheerful disposition, characteristic facial features, childhood hypotonia and joint laxity, truncal obesity, intermittent neutropenia, along with a progressive retinal dystrophy and refractive myopia. We present nine cases that illustrate the typical clinical features of the disorder at different ages, including a woman with the less common finding of ectopia lentis. CONCLUSIONS: Cohen syndrome remains underdiagnosed or misdiagnosed by ophthalmologists. Awareness of this condition among ophthalmologists is important because the typical systemic and ophthalmologic findings may lead to an accurate diagnosis and counseling. Although diagnostic criteria exist based on clinical studies of patients with confirmed VPS13B (COH1) gene mutations, no minimal clinical diagnostic criteria are widely accepted at this time.

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. Publishing Authors By Initials

M Taban,DS Memoracion-Peralta,H Wang,LI Al-Gazali,EI Traboulsi,M Taban,DS Memoracion-Peralta,H Wang,LI Al-Gazali,EI Traboulsi,

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Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of AAPOS : the official publication of the

VOLUME: 11

Page Numbers: 431-7

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ISSN: 1091-8531

DAY: 26

MONTH: 03

YEAR: 2007

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. Information

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LANGUAGE: eng

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AFFILIATION: Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

Country: United States

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MEDLINETA: J AAPOS

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