Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission

Am J Med Genet. 1996 Dec 30;66(4):449-52. doi: 10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U.


We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Failure to Thrive
  • Fatal Outcome
  • Female
  • Genes, Dominant*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype