Paediatrics Publications
Document Type
Article
Publication Date
6-30-2016
Journal
Application of Clinical Genetics
Volume
9
First Page
75
Last Page
82
URL with Digital Object Identifier
10.2147/TACG.S86420
Abstract
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.
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