| Literature DB >> 8411062 |
P Maroteaux1, M Le Merrer, H Bensahel, P Freisinger.
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.Entities:
Mesh:
Year: 1993 PMID: 8411062 PMCID: PMC1016506 DOI: 10.1136/jmg.30.8.704
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318