Sponastrime dysplasia. A radiologic-pathologic correlation.
The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an "oriental look" with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia.
Department of Radiology, Harbor-UCLA Medical Center, Torrance.
R S
RS
Lachman
H
H
Stoss
J
J
Spranger
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D011859:Radiography; D013577:Syndrome