Waardenburg syndrome. A case report and review of literature

ABSTRACT

Waardenburg syndrome is an autosomal dominantly inherited disorder with variable penetrance affecting 3% of all deaf children[1]. Genetic studies revealed a mutation in the PAX3 geneon the 2Q35 region. The major characteristic features are Dystopia canthorum; Synophrys; Broad nasal root; Depigmentation of hair, skin or both with white forelock; Heterochromic or hypochromic irides and congenital deafness. Genetic heterogenicity has led to classification of affected families as type I with dystopia canthorum, or type II, without dystopia canthorum disease. This article reviews the literature and describes a case of Waardenburg syndrome type I in a twelve month old male child