A rare genetic mutation case report: Waardenburg syndrome type I


Article PDF :

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Article type :

Case Report

Author :

Gagandeep Kaur, Anureet Kaur, Mandeep Kaur*, Haramritpal Singh, Charu Chadha

Volume :

9

Issue :

1

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.  

Keyword :

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