Of the many conditions that may be confused with child abuse, osteogenesis imperfecta (OI) deserves special consideration. Although this is a relatively rare disorder (1 in 20,000 births), cases of OI have been initially confused with inflicted skeletal injury. As will be apparent from the discussion in this chapter, such confusion is avoidable in most cases if a thorough clinical, radiologic, and molecular evaluation is carried out. A heightened public awareness of OI has created considerable controversy and has added a new dimension to the diagnostic imaging of suspected child abuse (1–13).
In recent years, many cases of children with features of inflicted trauma have had the flag of the OI defense raised by the children’s caretakers and their attorneys, as well as the plaintiffs’ legal representatives in other civil litigations. It has been well known since the earliest description of OI by Ekman in 1788 and Axmann’s (his own and his family’s) description in 1831 that fractures with minimal trauma are an important part of this disease complex (14, 15).
To differentiate OI from child abuse, it is necessary to understand the disease not only radiologically and clinically, but also appreciate the distinct histologic, biochemical, and molecular abnormalities associated with this important condition.