Juhan I, Bayle J, Mattei J F, Thevenieau D, Perrimond H, Muratore R
Pathol Biol (Paris). 1979 Oct;27(8):473-7.
The authors report on two cases of congenital thrombopenia with radial aplasia. Both children display several formative abnormalities and a mild thrombopenia; hemorragic manifestations occurred in the first case only. Megacryoblastic to platelets series, as studied with electronic microscopy, show small-sized, "microcytic" and hypogranular megacaryocytes, displaying a maturative disorder (dysmegacaryocytopoiesis). In functional studies, platelets of the first patient show an imperfect nucleotidic release and do not agregate normally with ristocetin. The second case exhibits mostly a PF3 reduction. The variety of expression of the megacaryocytic-platelets disorders appears likewise in the squelettal and visceral malformations. The whole disorder could be ascribed to a pleiotropic abnormal gene with a variable expressivity.
作者报告了两例伴有桡骨发育不全的先天性血小板减少症病例。两个患儿均表现出多种发育异常及轻度血小板减少；仅第一例出现了出血表现。通过电子显微镜研究巨核细胞至血小板系列，发现小型、“微细胞型”及颗粒减少的巨核细胞，显示出成熟障碍（巨核细胞生成异常）。在功能研究中，首例患者的血小板显示核苷酸释放不完善，且对瑞斯托霉素不能正常聚集。第二例主要表现为PF3降低。巨核细胞 - 血小板疾病的多种表现同样出现在骨骼和内脏畸形中。整个病症可归因于一个具有可变表达性的多效异常基因。
