The Dyggve-Melchior-Clausen syndrome in adult siblings.
The clinical and radiographic features of three adult siblings with mental deficiency and dwarfism due to the Dyggve-Melchior-Clausen syndrome are documented. The consanguinity of the unaffected parents is further evidence to support the concept of autosomal recessive inheritance of this disorder. The fact that this is the fifth reported kindred of Lebanese extraction emphasises the geographic predilection of the abnormal genes.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007861:Lebanon / Q000208:ethnology; D008297:Male; D010375:Pedigree; D011859:Radiography; D013019:South Africa; D013577:Syndrome