Osteogenesis imperfecta: diagnosis and treatment

Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. OI is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in OI over recent years. The clinical severity of OI can vary greatly, even within families who share a common mutation. Optimal management of OI requires a multidisciplinary approach involving pediatrician, endocrinologist (bone and mineral physician), rehabilitation specialist, orthopedic surgeon, dentist, geneticist, social worker/psychologist, physiotherapist, and occupational therapist. Bisphosphonate therapy remains the mainstay of medical treatment in OI and has been shown to decrease bone pain, enhance well-being, improve muscle strength and mobility and decrease fracture incidence. Novel therapies are beginning to emerge as more is understood about the signaling pathways involved in bone formation. The following summarizes the diagnosis, genetic heterogeneity and management of OI in pediatric practice.