A rare genetic mutation case report: Waardenburg syndrome type I

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

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

Article type :

Case Report

Author :

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

Volume :

Issue :

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.

Doi :

10.18231/j.ijceo.2023.024