成骨不全又称蓝巩膜-脆骨综合症,是一种常染色体遗传性疾病。绝大多数(90%以上)为显性遗传,常呈家族聚集,偶有散发,儿童中发病率约为1∶10 000,无明显性别差异。该病的主要病因是由于编码I型胶原α链的COL1A1、COL1A2基因突变,导致I型胶原合成障碍,结缔组织中胶原量尤其是Ⅰ型胶原含量降低,导致骨骼、皮肤、牙本质等部位出现病变。该病的临床特征主要有身材偏矮小、蓝色巩膜、骨密度减低或骨脆性增加并易骨折、进行性耳聋、牙本质发育不全以及鸡胸等等,重者可导致患儿围产期或出生后死亡,或反复骨折畸形失去劳动力。目前,医学界对该病尚无有效根治疗法,因此对有家族病史的高危孕妇做好产前咨询、诊断和基因筛查,进行优生干预很有必要。 Osteogenesis imperfecta, also known as blue sclera - brittle bone syndrome, is an autosomal genetic disease. The overwhelming majority (over 90%) were dominantly inherited, often familially clustered and occasionally exuded, with a prevalence of approximately 1: 10,000 in children with no significant gender differences. The main cause of the disease is due to mutations in the COL1A1 and COL1A2 genes encoding the α-chain of type I collagen, resulting in the disturbance of type I collagen synthesis and the reduction of the amount of collagen, especially type I collagen in the connective tissue, resulting in the appearance of bone, skin and dentin Lesions. The clinical features of the disease are mainly short stature, blue sclera, reduced bone density or increased bone fracture and fracture, progressive deafness, dentin hypoplasia and chicken breast, etc., can lead to severe cases of perinatal or birth After death, or repeated fractures deformity loss of labor. At present, there is no effective radical cure for the disease in the medical field. Therefore, prenatal counseling, diagnosis and gene screening are necessary for high-risk pregnant women with a family history. It is necessary for prenatal intervention.