| Literature DB >> 6336171 |
G K Hinkel, E Rupprecht, W Harzer.
Abstract
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.Entities:
Mesh:
Year: 1984 PMID: 6336171
Source DB: PubMed Journal: Helv Paediatr Acta ISSN: 0018-022X