Rubinstein Taybi syndrome

Abstract

Rubinstein Taybi is a rare genetic syndrome with characteristic facial features, broad thumb and toes, mental retardation. Diagnosis is mainly clinical. Here we report a 2 and 1/2 year old female child with typical facial features and other anomalies characteristics of Rubistein Taybi syndrome. Among the different features described-polydactyly, syndactyly, micrognathia are occasional abnormalities to be found in this syndrome. Bilateral pits on posterior aspect of helix is also a feature described in very few literatures.