Male-to-male transmission of mild Brachmann-de Lange syndrome

Am J Med Genet. 1994 Sep 1;52(3):331-3. doi: 10.1002/ajmg.1320520315.

Abstract

We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Developmental Disabilities / genetics
  • Face / abnormalities
  • Genes, Dominant
  • Growth Disorders / genetics
  • Humans
  • Male
  • Phenotype