TY  - BOOK
AU  - Tariq, Muhammad Ali
TI  - A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan
SN  - 2168-8184
PY  - 2018///
KW  - IN PROCESS -- NOT YET INDEXED
KW  - Medstar Washington Hospital Center
KW  - Angiocore Lab
KW  - Journal Article
N2  - Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan
UR  - https://dx.doi.org/10.7759/cureus.3143
ER  -