Waardenburg's syndrome

Abstract

A 2 � year old female child presented with heterochromia irides and a depigmented macule on the hand with central hyperpigmentation. There was presence of medial eyebrow hyperplasia, broad nasal root and dystopia canthorum. The fundus on the affected side was albinotic. There was no white forelock or deafness. Biopsy from the depigmented area showed an absence of melancocytes. A diagnosis of Waardenburg's syndrome type 1 was made.