Alagille等首先注意到一组肝内胆管发育不全并肝外胆管未闭的儿童。Alagille等报告了由这种原因引起慢性胆汁淤积的两组儿童,伴有先天性心脏病,特征性的脸和小骨骼畸形,结合这些所见,认为这是一种特殊的可以识别的综合征,称为Alagille综合征,即肝血管发育不良。以后的病例报告还注意到了该病患者的眼病变和其家族的特征。 Alagille et al. First noted a group of children with hypoplastic hepatolithiasis and extrahepatic bile duct obstruction. Alagille et al. Reported two groups of children with chronic cholestasis caused by this cause, with congenital heart disease, characteristic facial and minor skeletal deformities, which combined with these findings was considered a distinctive and identifiable syndrome , Known as Alagille syndrome, hepatic vascular dysplasia. Future case reports also noted the patient’s ocular lesions and their family characteristics.