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Baller Gerold syndrome and Fanconi anaemia

✍ Scribed by Quarrell, Oliver W.J.; Maltby, Edna L.; Harrison, Christine J.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 3 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980113)75:2<228::aid-ajmg25>3.0.co;2-q

No coin nor oath required. For personal study only.

✦ Synopsis

The editorial by Cohen and Toriello [1996] summarises the similarities between Baller-Gerold syndrome, Roberts syndrome, Fanconi anaemia (FA), VACTERL, and Rothmund-Thompson syndrome. They suggest that if the Baller-Gerold syndrome exists, it should be diagnosed on the basis of the original description of a narrow phenotype and that currently diagnosed cases should be reviewed. This case report confirms that editorial view and illustrates the need for longer-term follow-up of cases with normal laboratory results.

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