File:Osteogenesis imperfecta X-ray (clinically type IV) of right femur.png

English: X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject's obesity and poor bone density.