VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene

Am J Med Genet. 1997 Jan 10;68(1):86-90.


We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / pathology*
  • DNA Mutational Analysis
  • Fanconi Anemia / genetics
  • Fanconi Anemia / pathology*
  • Fanconi Anemia Complementation Group C Protein
  • Female
  • Fetus / abnormalities*
  • Humans
  • Hydrocephalus / pathology*
  • Pedigree
  • Pregnancy
  • Proteins / genetics
  • Twins, Dizygotic


  • FANCC protein, human
  • Fanconi Anemia Complementation Group C Protein
  • Proteins