Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D010375:Pedigree; D011859:Radiography; D013117:Spinal Cord Compression / Q000209:etiology; D013577:Syndrome
D006025:Glycosaminoglycans