Sponastrime dysplasia. A radiologic-pathologic correlation

Pediatr Radiol. 1989;19(6-7):417-24. doi: 10.1007/BF02387640.

Abstract

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.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Bone and Bones / ultrastructure
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Microscopy, Electron
  • Radiography
  • Syndrome