[Dyggve-Melchior-Clausen syndrome. Case report and review of the literature].
The Dyggve-Melchior-Clausen syndrome is inherited in an autosomal recessive mode and is clinically characterized by mental retardation, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by microcephaly. Specific radiologic findings concern the vertebral column, the pelvis, and the hands. A patient suffering from this syndrome is presented, the literature is summarized, and the clinical and radiologic manifestations are reviewed. As in two cases studied by others [27], the incorporation of radioactive sulphate into the mucopolysaccharides of the fibroblasts was normal in our patient. The activity of arylsulphatase B in the fibroblasts, however, was reduced as in the leucocytes of three reported cases [21]. These observations suggest that an as yet undefined specific sulphatase could be of importance for the pathogenesis of this condition.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D002803:Chondro-4-Sulfatase / Q000378:metabolism; D006130:Growth Disorders / Q000151:congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D011859:Radiography; D013122:Spinal Diseases / Q000151:congenital / Q000473:pathology; D013577:Syndrome
D002803:Chondro-4-Sulfatase
Das Dyggve-Melchior-Clausen-Syndrom. Fallbeschreibung und Literaturübersicht.