Title: Rubinstein–Taybi Syndrome

Authors: Dr Mohammad Taqui Imam, Dr Ghazi sharique Ahmad, Dr Ashit Kumar

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i6.104

Abstract

Introduction

  • Jack Rubinstein and Dr. Hooshang Taybi who recognized this pattern in seven unrelated children first described the condition in 1963. It occurs in an estimated 1 in 125000-300000 births.

Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.

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