Sunday, March 31, 2019

Alagille syndrome

autosomal dominant
arteriodysplastic syndrome with multiorgan involvement
mutation in Jagged 1 gene, ligand for notch receptor.

clinical
peculiar facies
chronic cholestasis
buttery vertebral arch
polycystic kidneys

usually affects GI/cardiovascular/pulmonary
stroke can occur
reports of aneurysmal SAH and moya moya

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