[Genetic basis for skeletal disease. Osteogenesis imperfecta].

Osteogenesis imperfecta (OI) is characterized by its bone fragility. But the spectrum of the severity of the fragility is widely distributed. Recently, amino-bisphosphonate has been introduced into the treatment of the bone fragility of OI. Apparently, the treatment may reduce the frequency of the fractures in severe form of OI. However, its efficacy has not been supported by strong evidences, such as randomized controlled clinical trial. This section describes the pathophysiology and new pathogenetic mechanism of OI, and describes recent evidence for the efficacy of BP treatment in OI.