Browsing by Author "Das, N"
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Publication Rubinstein Taybi Syndrome(Nepal Paediatric Society (JNPS), 2013) Das, N; Ghosh, N; Biswas, K; Nayek, KAbstract: 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 ½ 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.