Congenital bone marrow failure with myelodysplasia in siblings.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Rosoff, PM

Published Date

  • February 1995

Published In

Volume / Issue

  • 17 / 1

Start / End Page

  • 56 - 60

PubMed ID

  • 7743239

Pubmed Central ID

  • 7743239

International Standard Serial Number (ISSN)

  • 1077-4114

Digital Object Identifier (DOI)

  • 10.1097/00043426-199502000-00010


  • eng

Conference Location

  • United States