成骨不全是一种因结缔组织胶原发育缺陷引起的全身性疾病,有明显的家族性,根据临床表现分为先天性和迟发型二型。本病发生率低,国外报道先天性成骨不全发生率2.6/10万(活婴及死胎),迟发型成骨不全为4.7/10万(活婴)。本例迟发型成骨不全家系,五代共有患者九人,均为女性,现报告如下: 病例报告先证者,女,26岁,因腰背疼痛及膝关节囊肿就诊。自述稍有劳累疼痛即加 Osteogenesis imperfecta is a systemic disease caused by defects in the development of connective tissue collagen. It has obvious familial features and is divided into congenital and delayed type II according to clinical manifestations. The incidence of this disease is low, the incidence of congenital osteogenesis in foreign countries reported 2.6 / 100,000 (live and stillbirths), late-onset osteogenesis imperfecta 4.7 / 100000 (live baby). This case of late-onset osteogenesis imperfecta, a total of five generations of patients in five generations, are women, are as follows: Case report proband, female, 26 years old, due to low back pain and knee cyst treatment. Read a little bit of pain that increase