Hall J G, Levin J, Kuhn J P, Ottenheimer E J, van Berkum K A, McKusick V A
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Medicine (Baltimore). 1969 Nov;48(6):411-39. doi: 10.1097/00005792-196948060-00001.
Forty examples (27 from the literature and 13 new cases) of a syndrome of hypomegakaryocytic thrombocytopenia with bilateral absence of the radius have been analyzed. This syndrome is designated in this paper as "thrombocytopenia with absent radius (TAR)". The onset of hematologic complications usually occurs at birth or during early infancy. Thrombocytopenia may be episodic and sometimes is accompanied by leukemoid reactions and eosinophilia. Bone marrow examination reveals decreased and/or abnormal megakaryocytes, with normal myeloid and erythroid precursors. Congenital skeletal deformities include bilateral absence of radius, shortening and deformity of the ulnae, and occasionally absence of all the long bones in the arm. The fingers and thumbs are always present. Other skeletal anomalies are frequent. Cardiac anomalies, particularly the tetralogy of Fallot and atrial septal defects, may be present. Other non-skeletal congenital abnormalities are rare. The prognosis is good if the patient survives to one year of age. The syndrome has been compared to Fanconi's anemia, thalidomide embryopathy, limb-cardiovascular syndrome, and a syndrome of multiple congenital malformations, from which it can be distinguished.
对40例桡骨双侧缺如的低巨核细胞性血小板减少综合征病例（27例来自文献，13例为新病例）进行了分析。本文将该综合征命名为“桡骨缺如性血小板减少症（TAR）”。血液学并发症通常在出生时或婴儿早期出现。血小板减少可能是发作性的，有时伴有类白血病反应和嗜酸性粒细胞增多。骨髓检查显示巨核细胞减少和/或异常，而髓系和红系前体细胞正常。先天性骨骼畸形包括双侧桡骨缺如、尺骨缩短和畸形，偶尔还包括手臂所有长骨缺如。手指和拇指总是存在。其他骨骼异常很常见。心脏异常，特别是法洛四联症和房间隔缺损，可能存在。其他非骨骼先天性异常很少见。如果患者存活至1岁，预后良好。该综合征已与范可尼贫血、沙利度胺胚胎病、肢体-心血管综合征以及多种先天性畸形综合征进行了比较，可与之区分。
