Rubinstein Taybi Syndrome

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v33i1.7091

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

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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

Issue

Section

Brief Reports/Case Reports/Case Series