VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Am J Med Genet. 1992 Aug 1;43(6):1032-4. doi: 10.1002/ajmg.1320430624.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Aberrations
  • Diagnosis, Differential
  • Fanconi Anemia / complications
  • Fanconi Anemia / diagnosis
  • Fanconi Anemia / genetics*
  • Humans
  • Hydrocephalus / complications
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics*
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome