Osteogenesis imperfecta misdiagnosed as child abuse

The differential diagnosis of child abuse includes osteogenesis imperfecta (OI). Mild phenotypes of OI may be misdiagnosed as child abuse. The purpose of this study was to review the experience of families in which OI was misdiagnosed as child abuse. Sixty-one potential cases of misdiagnosis were identified from a lay support organization. Upon review of the medical records, 33 cases were identified with a confirmed diagnosis of OI (skin biopsy or DNA blood test). Questionnaires were given to families to describe their condition and experiences. There were 19 male and 14 female children. Mean age at presentation was 7.1 months (range: 1-23 months). All patients had fractures and the presenting symptoms included pain (n=14), swelling (n=7), decreased limb movement (n=5), or unusual limb position (n=2). Abnormal radiograph findings consistent with OI were found in 19 of 33 patients (58%), clinical findings of OI were present in 23 of 33 patients (70%), and a family history that could be supportive of OI was present in 18 of 33 families (55%). Children were removed from the family in 70% of cases and older siblings were removed from the family in 62% of cases. The mean age at the time of diagnosis of OI was 10.5 months (range: 3-35 months). The consequences of misdiagnosis of OI as child abuse are devastating to the family. OI should be considered in all cases of suspected child abuse. In children with any clinical, radiographic, or family history features of OI, early involvement of a bone specialist and performance of laboratory testing should be considered to establish a timely and accurate diagnosis.