Q:

What condition is not a congenital abnormality associated with patients who have Diamond- Blackfan anemia?

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A 9-mon th-old male patien t is referred by his pediatrician due to an abnormal blood count. Leu kocyte count is 7 , 300/f..Ll. hemoglobin is 7_/..j g/dl with MCV 1 09 fl. reticu-locytes is 1 . 0%, and platelet count is 58 1 .000/ f..Ll. The physical examination reveals no abnormal fi ndi ngs . The peripheral blood smear shows mild macrocytosis but is other-wise unremarkable. The i mage below shows the bone marrow aspirate specimen.

What condition is not a congenital abnormality associated with patients who have Diamond-Blackfan anemia?


  1. Microcephaly
  2. Papillomatous skin lesions
  3. Syndactyly
  4. Syndactyly
  5. Short neck

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B. The list of congenital abnormalities associated with DBA is extensive but does not in-clude papillomatous skin lesions. Craniofacial abnormalities predominate. Not all patients with DBA have apparent abnormalities; the range in published studies of patients with DBA who have at least one definite abnormality is 35% to 47% (Br J Haematol. 2008;142:859-876).

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