Osteogenesis imperfecta: lifelong management is imperative and feasible

Osteogenesis imperfecta is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. The classification of osteogenesis imperfecta has recently been improved by the inclusion of additional clinical and histomorphometric data. The diagnosis is often readily made in infancy; some cases, however, go unrecognized until adulthood. Lifelong multidisciplinary management is imperative. Pamidronate therapy in childhood is the most extensively studied treatment and has been proved beneficial. Other bisphosphonates are being evaluated, particularly in adults. Prevention of vitamin D and calcium deficiency is essential throughout life. Pain is common and should be given adequate attention.