Article
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?
American journal of medical genetics - 1 Aug 1992
Porteous M E, Cross I, Burn J
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Aberrations
- Diagnosis, Differential
- Fanconi Anemia
- Humans
- Hydrocephalus
- Infant, Newborn
- Male
- Phenotype
- Syndrome