Diamond-Blackfan syndrome in adult patients

Edward P. Balaban, George R. Buchanan, Mateel Graham, Eugene P. Frenkel

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Abstract

Two adults with pure red cell aplasia are described. No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. Musculoskeletal abnormalities (webbed neck, Sprengel's and Klippel-Feil deformities, and hand abnormalities) were similar to those seen in the congenital form of red cell aplasia (Diamond-Blackfan syndrome). As in the congenital variety, adrenal cortical steroids resulted in hematologic repair. These observations suggest that congenital (Diamond-Blackfan) pure red cell aplasia may be first recognized in adulthood and that steroids provide a potential therapeutic modality.

Original languageEnglish (US)
Pages (from-to)533-538
Number of pages6
JournalThe American journal of medicine
Volume78
Issue number3
DOIs
Publication statusPublished - Mar 1985

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All Science Journal Classification (ASJC) codes

  • Medicine(all)

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