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Helv Paediatr Acta. 1977 Nov;32(4):413-8.

Fanconi's anemia in infancy. Report of a case diagnosed in the pre-anemic stage.

C B Pignatti, E Bianchi, E Polito

PMID: 617986

Abstract

A 6 1/2-month-old girl is described, in whom the diagnosis of Fanconi's anemia in the pre-anemic stage was made on the basis of the following findings: growth failure, microcephaly, modest epicanthal folds, pigment spots, and chromosomal breaks. 4 months later progressive bone marrow failure developed and dramatically evolved into pancytopenia refractory to therapy.

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