Dusmet M, Fête F, Crusi A, Cox J N
Department of Pathology, University of Geneva, Switzerland.
J Med Genet. 1988 Jan;25(1):57-60. doi: 10.1136/jmg.25.1.57.
The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the bladder and penis and an askeletal rudimentary tail. The latter have not previously been described.
VATER综合征是椎体异常、肛门闭锁、伴有食管闭锁的气管食管瘘、肾脏缺陷和桡骨肢体发育不良的散发性非随机关联。心脏缺陷很常见,其他肢体畸形也很常见。本报告描述了一名早产儿,患有该综合征大部分已知的主要和次要缺陷,以及膀胱和阴茎发育不全和无骨骼的残余尾巴。后者此前尚未有过描述。