Skeletal findings in homocystinuria: A collaborative study

摘要

In a collaborative study from 7 European medical centres the radiographs of 24 patients with homocystinuria from 17 families were examined. The incidence and severity of bone manifestations were recorded. Homocystinuria may well be characterised as a spondylo-epimetaphyseal osteodysplasia because the main pathological changes occur in the vertebral column and in the epi-metaphyscal growth areas. Demineralisation was the leading symptom in the present series in all skeletal parts affected. In most instances careful examination of the radiographs enables the diagnosis of homocystinuria to be made radiologically. The pathogenesis and characteristic pattern of distribution of the osteoporosis require elucidation by further histological and biochemical investigation.