A Rare Case of Osteogenesis Imperfecta Type V

Abstract

Osteogenesis imperfecta (OI) is a hereditary bone condition characterised by fragile bones to be more susceptible to fracture. We reported a rare case of a 6-year-old girl with OI Type V and hyperplastic callus formation. She presented with recurrent fractures since birth with no family history of a similar condition. Clinically, her height and weight were lower than the 5th percentile for her age. She had deformities with limitation of movement of elbows, kyphoscoliosis, a more extensive right thigh, and anterior bowing of both legs. Radiographic examination revealed interosseous membrane of forearm ossification, dislocation of the right radial head and hyper-callosity of both femurs during fracture healing. She was treated with intravenous pamidronate and had posterior instrumentation and fusion for scoliosis and intramedullary rodding for her femur fracture. On a recent follow-up at the age of 16 years, she was ambulating well with no progression of the spinal deformity.