Classical osteogenesis imperfecta and allegations of nonaccidental injury

We report 12 patients with osteogenesis imperfecta initially diagnosed with nonaccidental injuries. As a result, formal hearings, care proceedings, and criminal proceedings ensued and seven of the children were removed from their parents. The features suggestive of osteogenesis imperfecta at the time of the initial investigation included a positive family history in six patients, scleral discoloration in nine, abnormally large anterior fontanels in four, excessive numbers of wormian bones in four, abnormal bone texture in two, and abnormal biochemical findings in three. There were discrepancies between the fractures and other clinical evidence of inflicted trauma. The seven patients removed from their homes eventually were returned. Five patients remained at home. Information was available on the subsequent history of the patients for an average of 4.8 years. Although seven patients have had additional fractures, there have been no additional allegations of nonaccidental injury. When investigating children with unexplained fractures, it is important to review carefully their clinical history, family history, physical examination findings, and radiographic findings. Misdiagnosing patients with nonaccidental injuries causes substantial harm to the family and particularly to the child.