Femoral Fracture Fixation in Osteogenesis Imperfecta Type 8 Using a Telescopic Nail

Osteogenesis Imperfecta (OI) Type VIII is a rare genetic disorder characterized by brittle bones susceptible to fractures. This condition is linked to mutations in the LEPRE1 gene, which plays a key role in collagen synthesis critical for bone strength. The patient presented with a novel homozygous c.446TG mutation in the P3H1 gene, unreported 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 managing this rare condition. Given its rarity, further research is needed to deepen understanding and improve therapeutic options for OI Type VIII.
Keywords: Osteogenesis imperfecta type VIII, collagen, telescopic nail, bracing

Keywords: Osteogenesis imperfecta type VIII, collagen, telescopic nail, bracing