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Dominant carpotarsal osteochondromatosis
P Maroteaux1, M Le Merrer, H Bensahel
1Clinique Maurice Lamy, Hôpital des Enfants-Malades, Paris, France.
Journal of Medical Genetics
|August 1, 1993
Abstract:
Dominant carpotarsal osteochondromatosis is a particular disorder of the wrist and tibiotalar joints with abnormal bone proliferation and osteochondromas. Two patients, a mother and son, are described here; a similar condition has previously been described in seven affected members of a family. The upper and the lower limbs are affected in the same patient and the lesion can be bilateral. Autosomal dominant inheritance is a further criterion allowing the diagnosis of dysplasia epiphysealis hemimelica.