Article Text

Download PDFPDF
New dysmorphic features in Rubinstein-Taybi syndrome.
  1. D Kanjilal,
  2. M A Basir,
  3. R S Verma,
  4. B K Rajegowda,
  5. R Lala,
  6. A Nagaraj
  1. Department of Pediatrics, Lincoln Medical and Mental Health Center-New York Medical College, Bronx 11206.

    Abstract

    We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended. The 3 month old patient had delayed motor and mental development corresponding to a 1 month old infant.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.