Case Reports in Pediatrics / 2017 / Article / Figbox 1

Case Report

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

Box 1

Abnormalities of Alagille Syndrome [1, 3, 4].
Major
   (i) Butterfly vertebrae
   (ii) Characteristic facies
   (iii) Ocular abnormalities
Minor
   (i) Vascular accidents
   (ii) Intracranial bleeding
   (iii) Renal anomalies
   (iv) Xanthomas
   (v) Supernumerary digital flexion
      creases
   (vi) Hypothyroidism
   (vii) Growth hormone insensitivity
   (viii) Pancreatic insufficiency
   (ix) Failure to thrive
   (x) Growth retardation
   (xi) Intellectual disability

Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.