| Literature DB >> 26059676 |
William C Hope1, Jose A Cordovez2, Jenina E Capasso2, Kristin M Hammersmith3, Ralph C Eagle4, Joel Lall-Trail5, Alex V Levin6.
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.Entities:
Mesh:
Year: 2015 PMID: 26059676 DOI: 10.1016/j.jaapos.2015.01.018
Source DB: PubMed Journal: J AAPOS ISSN: 1091-8531 Impact factor: 1.220