A systematic review found that among published radiographs in infants and young children with osteogenesis imperfecta, only one image met consensus criteria for a classic metaphyseal fracture—even among those considered diagnostic quality—highlighting the paucity of evidence linking the condition to this injury pattern.
Researchers searched Medline, CINAHL, and Web of Science for studies describing metaphyseal fractures in patients with osteogenesis imperfecta aged younger than 2 years. Of 298 abstracts identified, four studies met inclusion criteria, representing 11 patients and 22 reported “metaphyseal” fractures; mean age was 8.6 months.
Seven pediatric radiologists independently reviewed eight published radiographs to assess image quality and fracture classification.
The evidence base had several key limitations. Definitions of “metaphyseal fracture” varied across studies, some cases lacked genetic confirmation of osteogenesis imperfecta, and image quality was often insufficient for confident interpretation. The researchers said these factors prevented a meta-analysis and left the review unable to conclusively answer the question it set out to study.
To contextualize the findings, the senior author noted that across more than 14 years of clinical experience reviewing imaging from over 500 children with osteogenesis imperfecta, no classic metaphyseal fractures had been identified—only other fracture types such as metadiaphyseal injuries and metaphyseal spurs.
The strongest evidence in the literature came from a report involving siblings with Bruck syndrome, a recessive form of osteogenesis imperfecta associated with severe bone fragility. In this subtype, congenital joint contractures and marked fragility may predispose infants to fractures during routine handling, such as dressing or bathing.
The researchers concluded that osteogenesis imperfecta and abuse are not mutually exclusive and that classic metaphyseal fractures in infants and young children should continue to be thoroughly investigated for possible inflicted injury, even when osteogenesis imperfecta has been confirmed. As Ella Riley of The University of Sheffield and colleagues wrote, “Any classic metaphyseal fracture in any infant or young child should be thoroughly and appropriately investigated to exclude inflicted injury, even with the knowledge of confirmed OI.”
Limitations The review included only four eligible studies, most of them low or intermediate quality. Published radiographs were frequently nondiagnostic, original imaging files were unavailable, and heterogeneity across reports prevented pooled analysis.
The researchers reported no specific funding and no competing interests.
Source: BMJ Paediatrics Open