title: VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.
abstract: 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.
authors.affiliation: Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
authors.forename: P M
authors.initials: PM
authors.lastname: Cox
authors.forename: R A
authors.initials: RA
authors.lastname: Gibson
authors.forename: N
authors.initials: N
authors.lastname: Morgan
authors.forename: L A
authors.initials: LA
authors.lastname: Brueton
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D052218:Fanconi Anemia Complementation Group C Protein; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D010375:Pedigree; D011247:Pregnancy; D011506:Proteins / Q000235:genetics; D014429:Twins, Dizygotic
chemical_list: C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D011506:Proteins