A rare genetic mutation case report: Waardenburg syndrome type I

Abstract

Waardenburg syndrome is a rare genetically inherited disorder well-known for its classical auditory-pigmentary abnormalities. Various other minor systemic defects can also occur in structures developing from neural crest cells during embryogenesis. We are reporting a case of a 7-year old girl who presented to our OPD with bilateral sensorineural hearing loss and heterochromia iridis.