Abstract
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.
Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Anterior Eye Segment / abnormalities*
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Chromosome Deletion
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Chromosomes, Human, Pair 5 / genetics
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Cornea / pathology
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Corneal Diseases / diagnosis
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Corneal Diseases / etiology*
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Corneal Opacity / complications*
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Corneal Opacity / diagnosis
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Cri-du-Chat Syndrome / complications*
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Cri-du-Chat Syndrome / diagnosis
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Developmental Disabilities
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Eye Abnormalities / complications*
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Eye Abnormalities / diagnosis
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Female
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Humans
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Infant
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Microcephaly / diagnosis
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Microcephaly / etiology
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Microscopy, Acoustic
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Retinal Dysplasia / diagnosis
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Retinal Dysplasia / etiology*