Axial spondylometaphyseal dysplasia.
We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings.


CONCLUSIONS
We describe a new type of spondylometaphyseal dysplasia (SMD) and propose the name axial SMD.
Ehara
S
S
Department of Radiology, Iwate Medical University School of Medicine, Morioka, Japan. ehara@iwate-med.ac.jp
Kim
O H
OH
Maisawa
S
S
Takasago
Y
Y
Nishimura
G
G
D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology*; D011859:Radiography; D013577:Syndrome