The Dyggve-Melchior-Clausen syndrome

Am J Hum Genet. 1976 Nov;28(6):607-14.

Abstract

Two new cases of Dyggve-Melchior-Clausen syndrome are described; they belong to the fourth family from Lebanon in which this disease has been recognized. There is no genealogical linkage between these four families. A particular feature in these cases is a striking rhizomelic shortness of the arms especially in one case. Clinical and radiological findings, progression of the skeletal changes are studied, along with the review of the cases in the literature. Cytological and biochemical data indicate that the DMC syndrome is not a mucopolysaccharidosis.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Humans
  • Intellectual Disability*
  • Lebanon
  • Male
  • Pedigree
  • Syndrome