Indonesian type of metaphyseal dysplasia.
The authors describe two Indonesian siblings affected by a hitherto undocumented form of metaphyseal dysplasia that simulates enchondromatosis. The notable clinical features were short stature and lateral bowing of the lower extremities. These features were readily recognizable at birth. The radiographic examinations showed that the metaphyseal anomalies were localized predominantly in the lower extremities, the hip joints being the most severely affected. The upper extremities showed only minimal abnormalities. The name "Indonesian type of metaphyseal dysplasia" is suggested for this autosomal recessive bone disorder.
Kozlowski
K
K
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Pratomo
P S
PS
Burhan
A
A
Firman
K
K
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007214:Indonesia; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography