Unusual prenatal presentation of Beckwith-Wiedemann syndrome

Prenat Diagn. 2004 Jul;24(7):501-3. doi: 10.1002/pd.913.

Abstract

When Beckwith-Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Amniotic Fluid / chemistry
  • Amniotic Fluid / diagnostic imaging
  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / embryology
  • Beckwith-Wiedemann Syndrome / genetics
  • Female
  • Gestational Age
  • Hepatomegaly / diagnostic imaging*
  • Hepatomegaly / embryology
  • Hepatomegaly / genetics
  • Humans
  • Karyotyping
  • Pancreas / abnormalities*
  • Pancreas / diagnostic imaging
  • Pancreas / embryology
  • Placenta / diagnostic imaging
  • Placenta / pathology
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal