Dominant carpotarsal osteochondromatosis.
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.
Maroteaux
P
P
Clinique Maurice Lamy, Hôpital des Enfants-Malades, Paris, France.
Le Merrer
M
M
Bensahel
H
H
Freisinger
P
P
D000293:Adolescent; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018216:Osteochondromatosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography