## Letter to the Editor Fanconi Anemia in Blacks To the Editor: The article by Macdougall et al. [19901 on Fanconi anemia (FA) in black African children points out features which suggest that FA in blacks resembles more closely FA in every population group except Afrikaaners. However, they undere
Hydrocephalus in Fanconi anemia
β Scribed by Alter, Blanche P.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 70 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Two cases of Fanconi anemia presenting as hydrocephalus are discussed. Both infants had initially been considered to have features of VACTERL. Chromosomal breakage studies should be performed in all cases of VACTERL with hydrocephalus so that Fanconi anemia may be excluded. Β© 1992 Wiley
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 Ψ 4 A β T, a mutation in the Fanconi anemia complementation group C gene. This is the
## Abstract ## BACKGROUND Fanconi anemia (FA) is an autosomal recessive disease associated with an abnormal response to DNA damage. Although FA is well known for the association of aplastic anemia and characteristic birth defects, leukemia and solid tumors also occur at a high rate in this group o