A rare genetic mutation case report: Waardenburg syndrome type I

Authors : Gagandeep Kaur, Anureet Kaur, Mandeep Kaur, Haramritpal Singh, Charu Chadha

DOI : 10.18231/j.ijceo.2023.024

Volume : 9

Issue : 1

Year : 2023

Page No : 125-127

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.
 

Keywords: Waardenburg syndrome, Auditory- pigmentary abnormalities, Sensorineural hearing loss, Heterochromia iridis.

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