✦ LIBER ✦

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

✍ Scribed by Cox, Phillip M.; Gibson, Rachel A.; Morgan, Neil; Brueton, Louise A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 187 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<86::aid-ajmg17>3.0.co;2-k

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✦ Synopsis

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.