Radiographic abnormalities typical for SED
The SEDs are a diverse group of disorders linked by the radiographic findings of marked platyspondyly (short flat vertebrae) in association with abnormalities of epiphyseal ossification. Severe abnormalities in the epiphyses of long bones also occur. Spinal and long bone abnormalities often result in dwarfism with severe osteoarthritis. Genetic studies have linked this to abnormalities in the collagen type 2 gene ( COL2A1 )
