Multiple fractures due to osteogenesis imperfecta mistaken as child abuse

Abstract

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