Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly

Abstract

We report on a boy with anophthalmia, split hand, oligodactyly, syndactyly and polydactyly: These features are consistent with the diagnosis of the ophthalmo-acromelic syndrome (Waardenburg). However, the hand anomalies have not been reported yet. This observation helps to extend the wide range of expressivity of this rare syndrome.