X-linked Dyggve-Melchior-Clausen syndrome.
Ten affected males studied from four generations of a Colombian family with Dyggve-Melchior-Clausen (DMC) syndrome are described. The ages of the affected males varied from 13 to 50 years and they presented with typical clinical and radiological manifestations of the syndrome. The association of normal intelligence and a clear X-linked recessive inheritance in this family is evidence of heterogeneity in the Dyggve-Melchior-Clausen syndrome. In agreement with previous reports for DMC dwarfism, this new form has normal mucopolysaccharide excretion.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D012730:Sex Chromosomes; D013577:Syndrome; D014960:X Chromosome