Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndromeNote ear creases
  • Facts:
    Overgrowth disorder that is present from birth, characterized by an increased risk for childhood cancers
  • History / PE:
    Macrosomia, macroglossia
    Visceromegaly (liver, kidneys)
    Hyperplasia of pancreas
    Prominent eyes/occiput
    Ear creases
  • Diagnosis:
    Hypoglycemia / hyperinsulinemia
  • Complications:
    Wilms' tumor
  • Associated With:
    Duplication of chromosome 11p (contains IGF-2 gene)
  • Differential Diagnosis:
    Von-Gierke disease (fasting hypoglycemia)
    Denys-Drash syndrome (early onset renal failure)

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August 7th 2010