Osteogenesis Imperfecta

The pathogenesis of bone fragility in osteogenesis imperfecta (OI) is directly related to the role of type I collagen in bone formation. Genetic testing can identify pathogenic variants in COL1A1, COL1A2, or other OI-related genes, which may clarify the diagnosis for both the patient and their family. Molecular genetic testing, including analysis of these genes, confirms the diagnosis when a pathogenic variant is found and helps clarify inheritance patterns. It is important to note that the absence of a family history does not exclude OI, as a pathogenic variant may arise de novo. When assessing a child presenting with symptoms, document the exact mechanism, timing, and position of the child when symptoms began, along with the child's own description, pain behaviour, functional changes, swelling, deformity, neurovascular findings, interventions performed, response to treatment, and all notifications made. If the reported mechanism is inconsistent or there are additional concerning findings, both fracture care and a child-safety response are required to ensure comprehensive management.