title: Waardenburg syndrome--a case report.
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.
authors.affiliation: Guru Nanak Eye Centre, New Delhi, India. bansal.yuvi@gmail.com
authors.forename: Yuvika
authors.initials: Y
authors.lastname: Bansal
authors.forename: Parul
authors.initials: P
authors.lastname: Jain
authors.forename: Gaurav
authors.initials: G
authors.lastname: Goyal
authors.forename: Malvika
authors.initials: M
authors.lastname: Singh
authors.forename: Chittranjan
authors.initials: C
authors.lastname: Mishra
mesh_terms: D002648:Child; D003315:Cornea / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D006801:Humans; D007498:Iris / Q000473:pathology*; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000235:genetics