The radiological appearances of familial metaphyseal dysplasia.
Familial metaphyseal dysplasia (FMD) is a rare genetical conditional characterised by symmetrical metaphyseal splaying of the tubular bones. The diagnosis of FMD was made in four patients from two families in Japan; abnormal modelling defects were observed in the flat bones as well as tubular bones in some of the patients. In addition, quantitative measurement of the mineral content of the bone was carried out and was found to be one-quarter of the normal value.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging