[A new form of metaphyseal chondrodysplasia].
The authors report a new form of metaphyseal chondrodysplasia revealed in a 5 1/2 year-old boy with seizures. This disorder associated coxa vara, large terminal phalanges, bilateral cataracts and severe mental deficiency. Both parents were healthy, suggesting autosomal recessive transmission. There is no associated calcium phosphate metabolism disorder. An enzymatic abnormality might be the cause of the bone, ocular and neuronal lesions.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002386:Cataract / Q000150:complications; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography
Une nouvelle forme de chondrodysplasie métaphysaire.