阿拉吉耶综合征

Alagille syndrome.

作者信息

Shendge Harshalee, Tullu Milind S, Shenoy Asha, Chaturvedi Rachana, Kamat Jaishree R, Khare Manisha, Joshi Amita

机构信息

Department of Pediatrics, Seth G. S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.

出版信息

Indian J Pediatr. 2002 Sep;69(9):825-7. doi: 10.1007/BF02723701.

DOI:10.1007/BF02723701

PMID:12420920

Abstract

Syndromic paucity of bile ducts or "Alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis. We present a two-year-old female child with the 'partial' or 'incomplete' Alagille syndrome. The child had three of the five major features of the syndrome. A brief review of literature of the syndrome is presented.

摘要

综合征性胆管稀少或“阿拉吉耶综合征”的特征为特殊面容、慢性胆汁淤积、后胚胎环、蝶形椎弓缺损以及外周肺动脉发育不全或狭窄。我们报告一名患有“部分”或“不完全”阿拉吉耶综合征的两岁女童。该患儿具有该综合征五大主要特征中的三项。本文对该综合征的文献进行了简要综述。