The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

译文

自从二十多年前被描述以来,VATER协会的范围就一直在争论。为了评估与VATER相关的先天性异常的频谱,同时最大程度地减少由于临床系列典型的小样本和转诊模式引起的扭曲,我们研究了VATER协会向全球17个出生缺陷登记处的多重先天性异常婴儿联合登记处报告的婴儿,这些登记处是国际出生缺陷监测系统信息交换所 (icb-dms) 的一部分。在大约1000万名1983年1991年出生的婴儿中,icb-dms登记了2,295名婴儿,其中25名原因不明的无关主要先天性异常中有3名或更多。在这些婴儿中,286有VATER关联,当我们预期219时,VATER关联被定义为五个VATER异常中的至少三个 (椎骨缺损,肛门闭锁,食道闭锁,肾缺损和radial射线肢体缺陷) (P<0.001)。在这286名婴儿中,51名至少有4个VATER异常,8名有5个异常。我们发现,轴前肢体异常与四个非肢体VATER异常的任何组合显着相关 (P<0.001)。在286例VATER关联婴儿中,214 (74.8%) 有其他缺陷。生殖器缺陷,心血管异常和小肠闭锁与VATER关联呈正相关 (P<0.001)。VATER关联包括肾脏异常和肛门直肠闭锁的婴儿明显更容易出现生殖器缺陷。最后,VATER关联的一部分婴儿也存在其他关联中描述的缺陷,包括diaphragm肌缺陷,口腔裂隙,膀胱外翻,脐膨出和神经管缺陷。这些结果为VATER关联的特异性提供了证据,表明该关联中存在不同的子集,并提出了VATER模式和其他类型缺陷的共同途径的问题,至少在具有多种先天性异常的婴儿中。

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