Femur Fracture Management in a Newborn with Osteogenesis Imperfecta: A Case Report

Aims: This article aims to report a case of osteogenesis imperfecta from an orthopedic perspective, highlighting a study on the orthopedic management of a femur fracture.

Presentation of Case: A five-day-old Brazilian male neonate of South American ethnicity was diagnosed with type III osteogenesis imperfecta. Imaging tests identified common clinical manifestations of this disease. Bryant's traction was applied to immobilize the right femur, Pavlick's brace was used, and pamidronate disodium was prescribed. One month after birth, the patient was discharged from the Intensive Care Unit with excellent outcomes.

Discussion: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and low bone mineral density, resulting in recurrent fractures. OI is classified into five types based on severity. Clinical manifestations include skeletal weakening, blue sclera, and deafness. Diagnosis during intrauterine life remains challenging, while fractures during pregnancy are atypical. Management necessitates a multidisciplinary approach, incorporating orthoses, physiotherapy, and pharmacological interventions, which improves bone density but poses risks with prolonged use. Fracture treatment emphasizes minimal immobilization, physiotherapy, and tailored neonatal interventions such as Bryant traction. Patient and caregiver education is integral to optimizing outcomes in OI care.

Conclusion: This is a case report of a newborn with osteogenesis imperfecta (OI) who received treatment for a femur fracture. OI is a rare disease that can have a significant impact on affected patients. Therefore, it is essential to document treatment options and outcomes to contribute to the global database on this rare pathology.