Alagille等于1969年描述了以肝内胆囊管发育不全,周围肺动脉狭窄,具有深陷的眼睛、凸出的前额、眼部青春环的典型面容,以及脊柱缺陷为特征的综合征。还有肾脏缺陷,短身材和发育迟缓等少见的特征。本文报告了5例伴有20号染色体短臂缺失的Alagille综合征患者。例1,先证者为一对年青的无亲缘关系的欧洲白人的第一个孩子。妊娠39周出生。出生体重2350g,并发现有前额凸出,深陷的眼睛等畸形。生后第三天出现黄疸,血清 Alagille et al., In 1969, described the syndrome characterized by intrahepatic cystic duct hypoplasia, peripheral pulmonary stenosis, with deep eyes, prominent foreheads, typical facial features of the ocular annulus, and spinal defects. There are also rare features such as kidney defects, short stature and stunting. This article reports on 5 patients with Alagille syndrome with a short arm deletion on chromosome 20. Example 1, the proband is the first child of a young, unrelated white European. 39 weeks of pregnancy was born. Birth weight 2350g, and found protruding forehead, deep eyes and other deformities. The third day after birth, jaundice, serum