Osteogenesis imperfecta: A masquerader of child abuse

OI is a rare genetic disorder with a wide spectrum of clinical presentation. While severe cases of OI are easily diagnosed, mild cases may be confused with physical abuse. Clinical and radiological assessment are the mainstay of diagnosis. A punch skin biopsy may be considered in cases where the diagnosis remains unclear. A multidisciplinary team, which includes pediatricians, pediatric radiologists, pediatric orthopedists, geneticists, and a child protection team, should be utilized in the evaluation of all cases. While OI is a rare disease, it should be considered in the differential diagnosis of child abuse cases. Moreover, although OI can be misdiagnosed as child abuse, the child with OI may also be subjected to physical abuse.