A 15-month-old African–American boy receiving chemotherapy for Wilms tumour was diagnosed to have a fracture of left femur at the emergency department (ED) of our hospital. A month earlier, the patient had been seen at the same ED for a fracture of right femur. The skeletal survey this time also showed an old posterior rib fracture. Child abuse was suspected. The child’s custody was transferred to the maternal grandparents. However, 2 months later while with the grandparents, he sustained a fracture of the left distal tibia. This led to an investigation for osteogenesis imperfecta (OI). The child was found to have a collagen mutation, COL1A1, strongly suggesting that the child’s multiple fractures were most likely due to OI.
The child had no physical stigmata of classical OI except for blue sclera. Multiple bone fractures alone without other physical signs of abuse should always raise a possibility of OI.
Trial registration number: POG9440
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