Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome

Am J Med Genet. 1993 Nov 15;47(7):992-4. doi: 10.1002/ajmg.1320470710.


Severe mental retardation is the most handicapping disability for individuals with Brachmann-de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a "mild" BDLS somatic phenotype. Here we report on 2 high-functioning females, ages 3.7 and 10.6 years, with the classic BDLS somatic phenotype, i.e., all growth parameters at 4-5 standard deviations below the mean prenatally and postnatally. These 2 patients serve to extend the spectrum of classic BDLS to include cognitive function in the mild-to-moderate range of mental retardation.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • De Lange Syndrome / diagnosis*
  • De Lange Syndrome / genetics
  • De Lange Syndrome / psychology
  • Face / abnormalities
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Microcephaly / genetics
  • Phenotype
  • Prognosis