Inherited Forms of Bone Marrow Failure

Chapter 3 Inherited Forms of Bone Marrow Failure



Yigal Dror, Melvin H. Freedman




Table 3-1 Inherited Bone Marrow Failure Syndromes:
Inheritance and Mutated Genes

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AD, Autosomal dominant; AR, autosomal recessive; IBMFSs, inherited bone marrow failure syndromes; UK, unknown; WHIM, warts, hypogammaglobulinemia, infections, and myelokathexis; X-L, X-linked recessive.


Modified from Dror Y: Inherited bone marrow failure syndromes: Genetic complexity of monogenic disorders. In Genetic Disorders. InTech Open Access Publisher. Available at http://www.intechweb.org.


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Figure 3-1 DYSTROPHIC NAILS IN DYSKERATOSIS CONGENITA.


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Figure 3-2 LEUKOPLAKIA OF THE TONGUE IN DYSKERATOSIS CONGENITA.



Table 3-2 Miscellaneous Inherited Thrombocytopenia Disorders and Their Major Hematologic Features

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AD, Autosomal dominant; AML, acute myeloid leukemia; AR, autosomal recessive; MDS, myelodysplastic syndrome; MPV, mean platelet volume; X-L, X-linked recessive.


* Platelet size: small, MPV <7 fL; normal, MPV 7-11 fL; large or giant, MPV >11 fL.


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Figure 3-3 RADIOGRAPH OF A TRIPHALANGEAL THUMB IN DIAMOND-BLACKFAN ANEMIA.


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Figure 3-4 SIMILAR DIAMOND-BLACKFAN FACIES IN TWO UNRELATED GIRLS OF DIFFERENT ANCESTRIES CONSSTING OF A SMALL HEAD, ALMOND-SHAPED EYES WITH A SLIGHT ANTIMONGOLOID SLANT, A “FISH-LIKE” SMILE, AND A POINTED CHIN.



Table 3-3

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Jun 12, 2016 | Posted by in HEMATOLOGY | Comments Off on Inherited Forms of Bone Marrow Failure

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