近十余年来,世界各地相继报告了以肝内胆管发育不良、先天性心血管畸形、特殊面容和椎骨缺陷为主要表现的一组先天性发育异常,现已公认是一种新的综合征。历史1973年Waton等报告了5个家族的21名儿童中,9人同时患有因肝内胆道系统发育不良所致的阻塞性黄疸和肺动脉狭窄,并有特征性面容、骨骼畸形等先天性发育缺陷。1975年Alagille等人总结了自1956年以来观察到的15例类似病例,进行了综合性报告。此后,这种畸形引起人们广泛的注意,对其进行了较 In the past ten years or so, a group of congenital dysplasia mainly characterized by intrahepatic bile duct dysplasia, congenital cardiovascular malformations, special facial features and vertebral defects have been reported all over the world and is now recognized as a new syndrome . History In 1973, Waton et al. Reported that 21 out of the 21 children in 5 families also had obstructive jaundice and pulmonary stenosis due to poor development of the intrahepatic biliary system. They also had congenital features such as facial features and skeletal deformities Developmental defects. In 1975, Alagille et al. Summarized 15 similar cases observed since 1956 and conducted a comprehensive report. Since then, this deformity aroused widespread attention, its more than