Thévenieau D, Mattéi J F, Juhan I, Gratecos L A, Bayle J, Garnier J M, Giraud F
Arch Fr Pediatr. 1978 Jun-Jul;35(6):631-40.
Three cases of congenital radial aplasia and amegakaryocytic thrombopenia are discussed from clinical, genetic and hematological viewpoints. Electron microscope studies of the megakaryocytes in the first two patients revealed the presence of microcytic, immature and hypogranular cells. Platelet aggregability studies in the first patient demonstrated the presence of pathological intra-platelet nucleotide release as well as membrane abnormalities of the Willebrand factor binding site. The second case presented an isolated deficiency in platelet factor 3.
从临床、遗传和血液学角度对三例先天性桡骨发育不全和无巨核细胞性血小板减少症进行了讨论。对前两名患者的巨核细胞进行电子显微镜研究发现存在小细胞、未成熟和颗粒减少的细胞。对第一名患者的血小板聚集性研究表明存在病理性的血小板内核苷酸释放以及血管性血友病因子结合位点的膜异常。第二例表现为血小板因子3单独缺乏。
