[X-ray diagnosis of multiple epiphyseal dysplasia (a report of 3 cases from the same family)].
This is a case report of 3 cases from the same family with multiple epiphyseal dysplasia. The disease is an uncommon congenital dominant hereditary disease of the bone characterized by multiple and symmetrical skeletal involvement with retardation of epiphyseal development, accompanied by irregularity and shortening of toes and fingers and yet still maintaining the normal proportion between the trunk and extremities. The intelligence is not affected. In the adult patients, sloping of distal tibial articular surface associated with degenerative changes of both hip joints is a reliable diagnostic sign. The aforementioned X-ray signs are helpful to distinguish this condition from other chondrodysplasia diseases.
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Zhou
D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D010375:Pedigree; D011859:Radiography