Volume : IX, Issue : V, May - 2020

Waardenburg Syndrome: A rare genetic disorder

Pankaj Sharma, Diksha Gupta

Abstract :

Waardenburg syndrome is a rare genetic disorder with either autosomal recessive or autosomal dominant inheritance. It is believed to account for 2–5%of patients with congenital heå loss, has an estimated prevalence of 1 in 42000persons (or 0.24 per 10000persons).It is a disorder of neural crest cell development with distinct cutaneous manifestations. It is a group of genetic conditions that can cause heå loss and changes in pigmentation of the hair, skin and eyes (heterochromia).The heå loss is present from birth (congenital). Here we present 2 case reports who presented to our outpatient department with the heå loss since birth. Audiological evaluation revealed bilateral severe –profound sensorineural heå loss. Both case reports have positive family histories of congenital deafness. In these clinical scenarios an early diagnosis and timely intervention has an important role in psychological and intellectual development of affected patients.

Article: Download PDF    DOI : https://www.doi.org/10.36106/paripex  

Cite This Article:

WAARDENBURG SYNDROME: A RARE GENETIC DISORDER, Pankaj Sharma, Diksha Gupta PARIPEX-INDIAN JOURNAL OF RESEARCH : Volume-9 | Issue-5 | May-2020

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