Waardenburg syndrome--a case report

Cont Lens Anterior Eye. 2013 Feb;36(1):49-51. doi: 10.1016/j.clae.2012.10.083. Epub 2012 Oct 31.

Abstract

Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cornea / pathology*
  • Diagnosis, Differential
  • Female
  • Fundus Oculi
  • Genetic Predisposition to Disease
  • Humans
  • Iris / pathology*
  • Pedigree
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / genetics