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Skeletal dysplasias

Skeletal Dysplasias - these present with bone pain or joint deformity with swelling. 

  • They represent a spectrum of conditions, mostly rare and usually inherited with a spread of severity and clinical features.
  • Skeletal dysplasias may be suggested by short stature, joint contractures and pain often with a positive family history. 
  • The bone and joint swelling may mimic inflammatory arthritis and need to be considered in the differential diagnosis of arthritis.

The photograph below shows symmetrical bony swelling and deformity in a skeletal dysplasia called pseudorheumatoid dysplasia.