Congenital bone marrow failure with myelodysplasia in siblings.
PURPOSE: I describe two siblings who have a novel congenital bone marrow failure syndrome with myelodysplastic features without progression to malignancy for 13 and 20 years, respectively. PATIENTS AND METHODS: Male and female siblings were evaluated for chronic anemia and intermittent bruising. RESULTS: Both patients had been anemic from birth, one carrying a diagnosis of Diamond-Blackfan anemia and the other an idiopathic marrow failure syndrome. Both patients had a platelet function defect, mild pancytopenia, and bone marrow examination showed hypoplasia with myelodysplasia that did not fit a French-American-British classification. Neither patient had Fanconi's anemia, and the family history was negative. CONCLUSIONS: This is the first report of a novel syndrome of congenital bone marrow failure and myelodysplasia.
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