Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Orthopedic Surgery

Background: Osteogenesis imperfect (OI) is a genetic disorder characterized by increased bone fragility and multiple fractures. approximately 90% are caused by mutation in COL1A1 or COL1A2 genes, the disease is transmitted either autosomal dominantly or recessively or appear as a spontaneous mutation. protein product of these two genes is type I collagen, the major structural protein in the bone and skin, which is affected in quality, quantity or both.The most distinct feature of this disease is repeated fractures and deformities which are very challenging to treat. Making the bone harder by bisphosphonate treatment and by Intramedullary splinting of long bones is the standard of care in most pediatric orthopedic centers. the problem of treatment of young child with an intramedullary rod that has fixed length, is the bone overgrows the rod creating a segment of bone which is unsupported and very liable to deformity or fractures.The need for a device that elongates with bone growth was the triggering factor for the development of different types of telescoping Intramedullary nails in order to offer a better treatment for such patients.Aim: To investigate the efficacyof telescoping nail in the management of long bones fractures and deformities in patients with osteogenesis imperfecta. Materials and methods: A prospective case series study was conducted on 48 patients(70 telescoping nail operations(bone segment) with Osteogenesis imperfecta have long bones deformities or fractures. Patients were assessed clinically using Brief Assessment of motor function score (BAMF) and radiologically at immediate post operative and at 6 weeks and at 3 and 6 months and every 6 months for a period of 2 years

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