VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.
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.
Cox
P M
PM
Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
Gibson
R A
RA
Morgan
N
N
Brueton
L A
LA
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
C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D011506:Proteins