Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele

Prenat Diagn. 2008 May;28(5):447-9. doi: 10.1002/pd.1991.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Beckwith-Wiedemann Syndrome / diagnostic imaging
  • Beckwith-Wiedemann Syndrome / genetics*
  • Codon, Nonsense
  • Cyclin-Dependent Kinase Inhibitor p57 / genetics*
  • Female
  • Genetic Counseling*
  • Hernia, Umbilical / diagnostic imaging
  • Hernia, Umbilical / genetics*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Pregnancy
  • Ultrasonography, Prenatal

Substances

  • Codon, Nonsense
  • Cyclin-Dependent Kinase Inhibitor p57