DR. SHWETA DESHMUKH

DR. AJAY KUMAR SHUKLA

Abstract

INTRODUCTION:Waardenburg syndrome (WS) is a rare autosomal-dominant disorder characterized by sensory/neural hearing loss,pigmentary abnormalities of the skin,hair,and eyes,and craniofacial anomalies,Heterochromia iridis.

Objective:Reporting Waardenburg syndrome type1 is cause of heterochromia iridis in young adult male as it is a rare case report.

Patients and Methods:A 20-year-old male referred from ENT for evaluation of discoloration of left eye. He also has progressive decreased hearing noticed since age of 7 years.Family history was negative.Examination showed white forelock, hypertrichosis of the medial eyebrow, telecanthus, heterochromia iridis of left eye, broad nasal bridge, sensory neural hearing loss and gynaecomastia.

Conclusion: This case highlights Waardenburg syndrome is rare cause of heterochromia iridis.It should be considered in differential diagnosis of patients with typical clinical phenotype even in absence of positive family history.