Osteogenesis imperfecta – pathogenesis, clinical aspects and medical treatment

Osteogenesis imperfecta (OI) is a heritable disorder characterized by low bone mass and increased bone fragility. OI presents with a broad clinical spectrum that is traditionally described by a classification combining four different types of disease severity (OI type I-IV). Recently, this classification was extended (OI type V-VII) on the basis of additional clinical features. The awareness of the histological picture and new autosomal recessive forms as well as the underlying genetic mutations helps to correctly diagnose and manage the OI patient. This review gives an update on the classification and clinical picture of OI and describes new pathopysiological mechanisms of the disease. Current concepts of medical treatment are comprehensively discussed.