[Metachondromatosis. Report of a family with 4 cases].
Metachondromatosis is a hereditary dominant condition, which was differentiated from multiple hereditary cartilaginous exostoses by Maroteaux in 1971. We observed a family with 4 patients in 3 generations. The condition manifested in early childhood, showed a spontaneous regression after cessation of growth, and could be diagnosed with certainty by radiological signs. We found multiple tiny periarticular calcifications, small exostoses especially on the short tubular bones, and enchondromatous bone changes. The vertebral column takes part in the bone dysplasia. In addition, our patients show deformities of nails and teeth.
D000293:Adolescent; D000328:Adult; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002812:Chondroma / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D013577:Syndrome
Beitrag zur Metachondromatose. Bericht über eine Familie mit 4 Fällen.