Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype

Am J Med Genet. 1993 Nov 15;47(7):999-1002. doi: 10.1002/ajmg.1320470712.


We describe 4 patients with facial changes of Brachmann-de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Branchmann-de Lange phenotype. The relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • De Lange Syndrome / diagnosis*
  • De Lange Syndrome / genetics
  • De Lange Syndrome / psychology
  • Face / abnormalities
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Limb Deformities, Congenital
  • Male
  • Phenotype