Abstract
Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basisfrom genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy.Extrahematopoietic presentations are observed often in addition to symptoms related to defective hematopoiesis (also known asbone marrow failure). The biology, clinical features, and management of the main syndromes such as Fanconi anemia, dyskeratosiscongenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan anemia, andsevere congenital neutropenia are briefly summarized in this review.
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