Peters anomaly in cri-du-chat syndrome.

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.

• Authors: William C Hope, Jose A Cordovez, Jenina E Capasso, Kristin M Hammersmith, Ralph C Eagle, Joel Lall-Trail, Alex V Levin
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 19 Issue 3 Pg. 277-9 (Jun 2015) ISSN: 1528-3933 [Electronic] United States
• PMID: 26059676 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Topics

• Anterior Eye Segment (abnormalities)
• Chromosome Deletion
• Chromosomes, Human, Pair 5 (genetics)
• Cornea (pathology)
• Corneal Diseases (diagnosis, etiology)
• Corneal Opacity (complications, diagnosis)
• Cri-du-Chat Syndrome (complications, diagnosis)
• Developmental Disabilities
• Eye Abnormalities (complications, diagnosis)
• Female
• Humans
• Infant
• Microcephaly (diagnosis, etiology)
• Microscopy, Acoustic
• Retinal Dysplasia (diagnosis, etiology)