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A rare genetic mutation case report: Waardenburg syndrome type I

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Case Report

Author Details : Gagandeep Kaur, Anureet Kaur, Mandeep Kaur*, Haramritpal Singh, Charu Chadha

Volume : 9, Issue : 1, Year : 2023

Article Page : 125-127

https://doi.org/10.18231/j.ijceo.2023.024

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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.
 

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

How to cite : Kaur G, Kaur A, Kaur M, Singh H, Chadha C, A rare genetic mutation case report: Waardenburg syndrome type I. Indian J Clin Exp Ophthalmol 2023;9(1):125-127

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