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Article

Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings

1 Jan 2005

Abstract excerpt

Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We describe two cases in which second-trimester sonographic findings led to parental carrier testing...

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PMID: 15662710
DOI: 10.1002/pd.1055

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