Inherited Forms of Bone Marrow Failure

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

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.

Figure 3-1 DYSTROPHIC NAILS IN DYSKERATOSIS CONGENITA.

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

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

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.

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

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