Beckwith Wiedemann syndrome




Disorder consisting of macroglossia, viscer-omegaly, large body size, umbilical hernia or omphalocele, neonatal hypoglycemia

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Sometimes occurring with chromosome 11 defect

Clinical manifestation

Large at birth; abdominal wall defect, such as an umbilical hernia or omphalocele; distinctive facial appearance with a gaping mouth and large tongue; increased incidence of childhood tumors, such as Wilms tumor or adrenal carcinoma

Differential diagnosis

Children presenting with overgrowth: Simpson-Golabi-Behmel syndrome; Perl-man syndrome; Costello syndrome; proteus syndrome; Klippel-Trenaunay-Weber syndrome; neurofibromatosis


Neonatal hypoglycemia: intravenous glucose; defects of the abdominal wall: surgical repair


Weng EY, Mortier GR, Graham JM Jr (1995) Beck-with-Wiedemann syndrome. An update and review for the primary pediatrician. Clinical Pediatrics 34(6):3i7-326

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