title: VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?
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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: I
authors.initials: I
authors.lastname: Cross
authors.forename: J
authors.initials: J
authors.lastname: Burn
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome