A rare genetic mutation case report: Waardenburg syndrome type I-Reference-Cited by-同舟云学术

A rare genetic mutation case report: Waardenburg syndrome type I

Published:2023-03-15 Issue:1 Volume:9 Page:125-127
ISSN:2395-1443
Container-title:Indian Journal of Clinical and Experimental Ophthalmology
language:
Short-container-title:IJCEO

Author:

Kaur Mandeep,Kaur Gagandeep¹,Kaur Anureet²,Singh Haramritpal,Chadha Charu

Affiliation:

1. Guru Gobind Singh Medical College, Faridkot, Punjab, India

2. G

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.

Publisher

IP Innovative Publication Pvt Ltd

Subject

General Medicine

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