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Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3.

Inherited bone marrow failure syndromes in adolescents and young adults.

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  • 1Department of Pediatrics, Washington University School of Medicine , St. Louis, MO , USA.


The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.


Diamond–Blackfan anemia; Fanconi anemia; Shwachman–Diamond syndrome; aplastic anemia; congenital neutropenia; dyskeratosis congenita; myelodysplastic syndromes; thrombocytopenia absent radii syndrome

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