Article Text

Download PDFPDF
Brachmann-de Lange syndrome in sibs.
  1. K K Naguib,
  2. A S Teebi,
  3. S A Al-Awadi,
  4. M J Marafie
  1. Kuwait Medical Genetics Centre, Maternity Hospital.

    Abstract

    We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases.

    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.