Case: Paediatric radiograph #108593290
Paediatric Advanced
Read this radiograph systematically before revealing the answer. What is the main abnormality?
Tip: scroll or pinch to zoom, drag to pan, and try Invert.
Answer: Osteogenesis imperfecta
What to look for in osteogenesis imperfecta
- Osteopenia, multiple fractures, Wormian bones.
Description by the image author (may be in another language): 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 a
Educational case. The diagnosis comes from the image's documented source; the "what to look for" list describes the condition in general and is not a report of this individual image.
