Literature DB >> 6336171

[Metachondromatosis. Report of a family with 4 cases].

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.

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Year:  1984        PMID: 6336171

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  1 in total

1.  Metachondromatosis: more than just multiple osteochondromas.

Authors:  Thomas J Fisher; Nicole Williams; Lloyd Morris; Peter J Cundy
Journal:  J Child Orthop       Date:  2013-09-21       Impact factor: 1.548

  1 in total

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