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.