Bone changes in homocystinuria

Abstract

Homocystinuria is an inborn error of methionine metabolism, almost always associated with dislocation of the lens, and commonly accompanied by mental retardation, fair hair and malar flush, and by postural and vascular disorders and thrombo-embolic phenomena. Skeletal abnormalities are widespread. An analysis of radiological findings in eight new cases is submitted. Marked local changes in the ephiphyses, metaphyses and diaphyses of many bones are observed. There is irregularity in the development and growth of centres of ossification. Some clinical and radiological features suggest Marfan's Syndrome from which the condition of homocystinuria must be distinguished. Homocystinuria is an inborn error of methionine metabolism, almost always associated with dislocation of the lens, and commonly accompanied by mental retardation, fair hair and malar flush, and by postural and vascular disorders and thrombo-embolic phenomena. Skeletal abnormalities are widespread. An analysis of radiological findings in eight new cases is submitted. Marked local changes in the ephiphyses, metaphyses and diaphyses of many bones are observed. There is irregularity in the development and growth of centres of ossification. Some clinical and radiological features suggest Marfan's Syndrome from which the condition of homocystinuria must be distinguished.