Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia

SA Savage, C Dufour - Seminars in hematology, 2017 - Elsevier
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases
characterized by failure in the production of one or more blood lineage. The clinical
manifestations of the IBMFS vary according to the type and number of blood cell lines
involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In
some IBMFS, systemic non-hematologic manifestations, including congenital malformations,
mucocutaneous abnormalities, developmental delay, and other medical complications, may …