| Literature DB >> 23121842 |
Yuvika Bansal1, Parul Jain, Gaurav Goyal, Malvika Singh, Chittranjan Mishra.
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.Entities:
Mesh:
Year: 2012 PMID: 23121842 DOI: 10.1016/j.clae.2012.10.083
Source DB: PubMed Journal: Cont Lens Anterior Eye ISSN: 1367-0484 Impact factor: 3.077