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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 photographs below show symmetrical swellings on the medial aspect of a child's lower leg and the radiographs demonstrate bone exostoses due to skeletal dysplasia.

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

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