VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? - PubMed (original) (raw)
Case Reports
. 1992 Aug 1;43(6):1032-4.
doi: 10.1002/ajmg.1320430624.
Affiliations
- PMID: 1415330
- DOI: 10.1002/ajmg.1320430624
Case Reports
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?
M E Porteous et al. Am J Med Genet. 1992.
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.
Comment in
- Absence of excess chromosome breakage in a patient with VACTERL-hydrocephalus.
Evans JA, Chodirker BN. Evans JA, et al. Am J Med Genet. 1993 Aug 1;47(1):112-3. doi: 10.1002/ajmg.1320470123. Am J Med Genet. 1993. PMID: 8240537 No abstract available. - Hydrocephalus in Fanconi anemia.
Alter BP. Alter BP. Am J Med Genet. 1993 Mar 15;45(6):785. doi: 10.1002/ajmg.1320450627. Am J Med Genet. 1993. PMID: 8456865 No abstract available.
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