摘要
Alagille syndrome （AGS, OMIM#118450） is a multi-system, autosomal dominant disorder with variable clinical manifestation, which primarily affects the liver, heart, eyes, face, and skeleton. The estimated incidence of AGS is 1 in 70000 births of all races worldwide; however it has been rarely reported in Chinese children. We treated a Chinese boy presenting with jaundice, pruritus and gowth failure finally who had been diagnosed as having AGS. Informed consent was obtained from the legal guardian of the child before reporting.
Alagille syndrome （AGS, OMIM#118450） is a multi-system, autosomal dominant disorder with variable clinical manifestation, which primarily affects the liver, heart, eyes, face, and skeleton. The estimated incidence of AGS is 1 in 70000 births of all races worldwide; however it has been rarely reported in Chinese children. We treated a Chinese boy presenting with jaundice, pruritus and gowth failure finally who had been diagnosed as having AGS. Informed consent was obtained from the legal guardian of the child before reporting.
