[Dyggve-Melchior-Clausen syndrome]

Tijdschr Kindergeneeskd. 1984 Jun;52(3):103-7.
[Article in Dutch]

Abstract

The Dyggve-Melchior-Clausen syndrome is a probably autosomal recessively inherited disorder characterized by mental retardation, dwarfism, and skeletal abnormalities especially of the spine, pelvis and hands. It is possibly caused by a disturbance in the protoglycan metabolism. Two Moroccan sibs with this syndrome are described, the first in Dutch literature.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Dwarfism / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Pelvic Bones / abnormalities
  • Spine / abnormalities
  • Syndrome