Objective: To determine whether analysis of collagen synthesized by dermal fibroblasts could identify children with osteogenesis imperfecta (OI) among those suspected to have been abused.
Methods: We reviewed biochemical studies and clinical findings for all children who were referred to us to distinguish OI from abuse during a 4-year period.
Results: Cells from 6 of 48 children tested to distinguish OI from abuse had biochemical evidence of OI. In five of the six children with abnormal results on collagen studies, clinical signs of OI in addition to fractures were present on examination by a physician familiar with the condition. In those five cases, the diagnosis of OI was strongly suspected.
Conclusions: OI can be diagnosed by biochemical studies in some cases of suspected abuse, but clinical evaluation by experienced physicians is usually sufficient to do so. When diagnostic uncertainty persists in cases of suspected child abuse, biochemical studies may be a useful adjunct, but routine biopsy for children suspected to have been abused is unwarranted.