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

✍ Scribed by Porteous, M. E. M. ;Cross, I. ;Burn, J.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 324 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430624

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✦ Synopsis

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. © 1992 Wiley‐Liss, Inc.

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