Rubinstein Taybi Syndrome

  • 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

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.

DOI: http://dx.doi.org/10.3126/jnps.v33i1.7091

J Nepal Paediatr Soc. 2013;33(1):68-69

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Author Biographies

N Das, R.G Kar Medical College, Kolkata, West Bengal
MD Resident, Department of Paediatrics
N Ghosh, R.G Kar Medical College, Kolkata, West Bengal

Residential Medical Officer cum Clinical Tutor, Department of Pediatrics

S Biswas, R.G Kar Medical College, Kolkata, West Bengal
MD Resident, Department of Paediatrics
K Nayek, R.G Kar Medical College, Kolkata, West Bengal

Professor, Dept. of Pediatrics

Published
2013-06-15
How to Cite
Das, N., Ghosh, N., Biswas, S., & Nayek, K. (2013). Rubinstein Taybi Syndrome. Journal of Nepal Paediatric Society, 33(1), 68-69. https://doi.org/10.3126/jnps.v33i1.7091
Section
Brief Reports/Case Reports/Case Series