Telescopic nail fixation of a femur fracture in a patient with osteogenesis imperfecta type 8: A rare case of homozygous c.446T>G mutation in the P3H1 gene

Osteogenesis imperfecta (OI) type VIII is a rare genetic disorder characterized by brittle bones that are susceptible to fractures. This condition is associated with mutations in the LEPRE1 gene, which plays a key role in collagen synthesis and is critical for bone strength. The patient presented with a novel homozygous c.446TG mutation in the P3H1 gene that has not previously been reported in the literature. Individuals with OI type VIII commonly exhibit frequent fractures, skeletal deformities, short stature, blue sclerae, hearing loss, and dental abnormalities. Management focuses on symptom relief and fracture prevention through physical therapy, bracing, and surgical interventions. This report highlights the treatment of a patient with OI type VIII who sustained two femoral shaft fractures. The fractures were successfully managed with telescopic nailing, emphasizing the importance of tailored surgical approaches in the management of this rare condition. Given its rarity, further research is needed to deepen our understanding of OI type VIII and improve therapeutic options.

Keywords: Bracing, collagen, osteogenesis imperfecta type VIII, telescopic nail.