Presentation
Admitted with irritability and crying excessively.
Patient Data
A full skeletal survey has been performed.
Skull radiographs: The skull vault is poorly mineralized and there are multiple wormian bones.
Lower Limbs radiographs: Overall the bones show generally poor mineralization. There are fractures of the proximal femora. The right femoral fracture shows evidence of callus formation. The left femoral fracture is most recent. There is bowing of both tibia indicating bone softening.
Chest and spine radiographs: There is poor mineralization of the ribs and the spine.The ribs are gracile with expansion at the costochondral junctions.
Conclusion: Appearances are suggestive of osteogenesis imperfecta.
Case Discussion
A case of osteogenesis imperfecta type 3 was confirmed, clinically severe.
Many thanks to Dr Saman Perera, Consultant Radiologist.
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