VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies?
Article first published online: 7 JUN 2005
Copyright © 1992 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 43, Issue 6, pages 1032–1034, 1 August 1992
How to Cite
Porteous, M. E. M., Cross, I. and Burn, J. (1992), VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies?. Am. J. Med. Genet., 43: 1032–1034. doi: 10.1002/ajmg.1320430624
- Issue published online: 7 JUN 2005
- Article first published online: 7 JUN 2005
- Manuscript Revised: 6 NOV 1991
- Manuscript Received: 10 SEP 1990
- rare autosomal recessive disorder;
- congenital malformations;
- hydrocephalus Fanconi anemia chromosome breakage
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. © 1992 Wiley-Liss, Inc.