Waardenburg syndrome Type 2- A case report

Abstract : Waardenburg syndrome (WS) is a rare autosomally inherited disorder of neural crest cell development characterized by varying degrees of hearing loss and pigmentary changes affecting eye, hair and skin.Four subtypes of the disease are recognized based on the clinical presentation. A careful clinical evaluation is required to differentiate various types of WS. We describe here a case of WS Type 2 who presented to our outpatient department. Keyword :Waardenburg syndrome, sensorineural deafness, heterochromia iridium