[Dyggve-Melchior-Clausen syndrome].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010384:Pelvic Bones / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome
Het Dyggve-Melchior-Clausen syndroom.