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  • Title: Diamond-Blackfan syndrome in adult patients.
    Author: Balaban EP, Buchanan GR, Graham M, Frenkel EP.
    Journal: Am J Med; 1985 Mar; 78(3):533-8. PubMed ID: 3919581.
    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.
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