FAMILIAL DEAFNESS AND IRIS ATROPHY - REPORT FROM NIGERIA
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Keywords

Waardenburg syndrome
sensorineural hearing loss
autosomal dominant
iris atrophy
gene

How to Cite

FAMILIAL DEAFNESS AND IRIS ATROPHY - REPORT FROM NIGERIA. (2023). Nigerian Journal of Otorhinolaryngology, 18(2). https://journal.orlson.org/index.php/njorl/article/view/13

Abstract

Waardenburg’s syndrome (WS) is an uncommon autosomal dominant or recessive disorder. The complete syndrome is rare and variations in the 
clinical presentation of WS is due to the expression of different genes. 
Herein we report a familial case of a man and his children a boy and a girl, who have iris atrophy with deafness. The diagnosis of Waardenburg’s 
syndrome was made because three major diagnostic criteria were identified in them

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