skeletal disorders

Last reviewed 01/2018

The commonest skeletal disorder is dysostosis multiplex:

  • bone formation is abnormal in the metaphysis, diaphysis and epiphysis
  • radiographs demonstrate:
    • oar shaped ribs - the flattened end at the sternum
    • enlarged diaphyses and roughened epiphysial centres
    • anterior beaking of the vertebrae
    • odontoid hypoplasia
    • rarely, spinal dislocation

Patients, notably with Gaucher's disease, may suffer vascular damage to bone such as avascular necrosis of the femoral head.