Osteogenesis Imperfecta (OI) is a rare hereditary disorder that leads to fragile bone mineralization and is most often due to a genetic defect in type I collagen, the primary collagen subtype that comprises bone. Patients with OI suffer from a significant burden of fractures and bony deformities. It has been recognized in countries throughout the world and has a variable age and severity of presentation depending on the subtype of OI. Recognition of this disorder requires a high index of suspicion on the part of the clinician, as it can easily be mistaken for non-accidental trauma in children. The current approach to care for patients with this disorder comprises surgical care with intramedullary rod fixation, cyclic bisphosphonate therapy, and rehabilitation to maximize the patient's quality of life and function. This case report demonstrates the importance of considering OI in the differential diagnosis of a child presenting with recurrent fractures so that appropriate testing and treatment interventions can be implemented. The case presented here is that of a male patient with osteogenesis imperfecta who suffered from recurrent long bone fractures, including his femurs bilaterally. His index fracture occurred after a visit to the pediatric ER for an unrelated issue, where his mother claimed that the boy demonstrated pain in his affected leg shortly after the visit. There was a delay in his diagnosis, and the patient suffered multiple fractures before undergoing the insertion of Fassier-Duval rods bilaterally into his femurs to prevent further injury.
Keywords: fassier-duval; fracture; orthopedic surgery; osteogenesis imperfecta; pediatric orthopedics; type 1 collagen.
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