Literature DB >> 617986

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

C B Pignatti, E Bianchi, E Polito.   

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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Year:  1977        PMID: 617986

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  1 in total

Review 1.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

  1 in total

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