Prednisone-responsive congenital erythroid hypoplasia.
A 24-year-old woman had congenital hypoplastic anemia (Blackfan-Diamond syndrome). Anemia was discovered at the age of 12 months and persisted thereafter. The patient had associated congenital abnormalities of urethral stricture, hypoplastic thumb, and absent radial pulse. Her erythroid hypoplasia responded favorably to treatment with prednisone.
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000151:congenital / Q000188:drug therapy*; D002648:Child; D002675:Child, Preschool; D004913:Erythrocytes, Abnormal; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D011241:Prednisone / Q000627:therapeutic use*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014525:Urethral Stricture / Q000151:congenital
D011241:Prednisone