Peters anomaly in cri-du-chat syndrome

J AAPOS. 2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Supplementary concepts

  • Peters anomaly