| Osteogenesis imperfecta (OI) is a kind of hereditary connective tissue disease, characterized by increased bone fragility and repeated fracture, and may also involve in eyes, ears, and the skin. It includes autosomal dominant and autosomal recessive inheritance. According to the clinical phenotype, genetic mode, and pathogenic genes, it can be divided into 15 types, and the newly discovered pathogenic genes need to be further defined. Majority of OI patients is autosomal dominant inheritance, mainly caused by mutation of type I collagen structure gene COL1A1 and COL1A2. There are few patients with osteogenesis caused by non-type I collagen autosomal recessive genetic mutation. However, there are many kinds of pathogenic genes, and the mechanism is complicated, mainly due to the abnormal metabolism of procollagen. It is not difficult to establish an OI diagnosis through typical clinical features and brittle fractures. In order to prevent newborn children, prenatal gene diagnosis is extremely important. The treatment of OI requires the optimization of multiple disciplines. The severe ones can take actions to correct deformity and improve the negative gravity line. Combined drug treatment can reduce the pain and the risk of fracture. Now bisphosphonates play a dominant position in OI medication. PTH and anti-sclerotic antibody drugs are expected to increase bone mineral density, to improve bone microstructure, and to reduce the risk of fractures. Gene therapy and stem cell transplantation are new means of treatment. This article reviews the progress in osteogenesis imperfecta. |