Laboratory testing for osteogenesis imperfecta and other genetic predispositions for fractures appears to be a valuable tool to identify the basis for fractures in children in whom non-accidental injury is suspected.
Researchers at the University of Washington, in Seattle, Washington, United States, retrospectively reviewed medical records and biochemical test results in 262 patients. Among those in whom non-accidental injury was suspected, cultured fibroblasts were received for biochemical testing of osteogenesis imperfecta.
Eleven samples revealed alterations in the amount or structure of synthesised type I collagen, consistent with osteogenesis imperfecta. Of these 11, referring physicians correctly identified six as osteogenesis imperfecta on the basis of clinical information. They did not identify the condition in three cases, and in two other cases the clinical information was inadequate for diagnosis.
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