Bradshaw A, Donnelly L F, Foreman J W
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Pediatr Nephrol. 2000 Jan;14(1):29-31. doi: 10.1007/s004670050007.
The TAR syndrome is an inherited disorder characterized by limb abnormalities, especially absent radii, and hypomegakaryocytic thrombocytopenia. Previous reports have included two infants with genitourinary abnormalities. We report a newborn with bilaterally absent radii and foreshortened ulnae, hypoplastic humeri, a left clubfoot, a ventricular septum defect, and persistent thrombocytopenia. This constellation of abnormalities is consistent with the TAR syndrome. In addition, he had a horseshoe kidney with parenchyma of normal appearance. This is the first report of horseshoe kidney in association with the TAR syndrome.
血小板减少伴桡骨缺失综合征(TAR综合征)是一种遗传性疾病,其特征为肢体异常,尤其是桡骨缺如,以及低巨核细胞性血小板减少症。既往报道中有两名患有泌尿生殖系统异常的婴儿。我们报告一例新生儿,双侧桡骨缺如、尺骨缩短、肱骨发育不全、左足内翻、室间隔缺损以及持续性血小板减少症。这一系列异常符合TAR综合征。此外,他还有马蹄肾,但其肾实质外观正常。这是马蹄肾与TAR综合征相关的首例报告。