An autopsy case of osteogenesis imperfecta initially suspected as child abuse

Osteogenesis imperfecta (OI) is an uncommon congenital disease of collagen synthesis. It has a wide range of phenotypic expressions, but it is classically characterized by varying degrees of bone fragility. Consequently, individuals with OI frequently suffer repeated severe bone injuries from otherwise innocuous traumatic events. In the evaluation of suspected child abuse cases with suspicious fractures, clinicians are taught to rule out the possibility of OI. However, because OI is quite rare, this possible diagnosis may be overlooked in situations where the child seems to have clearly suffered non-accidental trauma. OI may potentially be mistaken for child abuse by an inexperienced examiner. An autopsy case of osteogenesis imperfecta that was initially diagnosed as child abuse is presented.