Publication: Rubinstein Taybi Syndrome
Date
2013
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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 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.
Description
N Das
R.G Kar Medical College, Kolkata, West Bengal
N Ghosh
R.G Kar Medical College, Kolkata, West Bengal
S Biswas
R.G Kar Medical College, Kolkata, West Bengal
K Nayek
R.G Kar Medical College, Kolkata, West Bengal
Keywords
Rubinstein Taybi Syndrome, genetic syndrome, microcephaly, mental retardation