Case Reports in Pediatrics / 2017 / Article / Figbox 2

Case Report

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome

Box 2

Major diagnostic criteria of Alagille Syndrome [2, 4, 7, 8].
(i) Diagnosis of Alagille Syndrome requires biopsy
   proven paucity of interlobular bile ducts
(ii) Plus 3 of the following 5 characteristic features:
   (a) Chronic cholestasis
   (b) Congenital cardiac disease
   (c) Skeletal defects
   (d) Ocular anomalies
   (e) Characteristic facies

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