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Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome

✍ Scribed by Rossbach, Hans-Christoph; Sutcliffe, Maxine J.; Haag, Mary M.; Grana, Nanette H.; Rossi, Anne R.; Barbosa, Jerry L.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 12 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<65::aid-ajmg12>3.0.co;2-u

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✦ Synopsis

T w o brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient [Farrell et al.,

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