Abstract
Osteogenesis imperfecta (OI) is the most common hereditable cause of bone fragility in children. A Japanese 2-year-old boy fell accidentally from a slide, sustaining a femur shaft fracture. Several maternal family members had experienced episodes of hearing impairment and bone fracture. The injury mechanism was clear and competent. Child abuse was unlikely. Strong family history and presence of blue sclera confirmed the OI diagnosis. Any doctor treating pediatric femur fractures should recall the rare cause of OI. Clinical evaluation alone without a family interview might not complete the diagnosis with OI. We continued proposing to his parents the benefit of receiving bisphosphonate treatment.
Published Version
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