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VATER综合征:46例未进行染色体核型分析的病例分析。

The VATER association: analysis of forty six cases without karyotyping.

作者信息

Huang L W, Chen M R, Lin S P, Huang F Y, Ho M Y, Kao H A, Hsu C H, Hung H Y, Tsai T C

机构信息

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.

出版信息

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Jan-Feb;36(1):30-4.

PMID:7778443
Abstract

Forty-six patients with two or more features of the VATER association admitted to the Mackay Memorial Hospital from May, 1983 to Mar, 1992 were retrospectively enrolled in this study. We compared the incidence of major features with that reported in the literature. Imperforate anus, congenital heart disease, and renal anomalies were the three most common major features in our study. Thirteen patients died. Heart failure was the major cause of mortality. We noted many patients associated minor features, and among them there was a relatively high ratio of cleft lip, cleft palate, and hypospadius. The overall outcome and development were good among the survivals. We suggest that children who have any congenital anomaly included in the VATER association should get a careful examination and evaluation of their heart, genitourinary tract, limbs and vertebrae. Early correction if possible is indicated in such patients.

摘要

1983年5月至1992年3月期间入住麦凯纪念医院的46例具有两种或更多VATER综合征特征的患者被纳入本回顾性研究。我们将主要特征的发生率与文献报道的发生率进行了比较。肛门闭锁、先天性心脏病和肾脏异常是我们研究中最常见的三种主要特征。13例患者死亡。心力衰竭是主要死因。我们注意到许多患者伴有次要特征,其中唇裂、腭裂和尿道下裂的比例相对较高。存活患者的总体预后和发育情况良好。我们建议,任何患有VATER综合征相关先天性异常的儿童都应接受心脏、泌尿生殖道、四肢和脊柱的仔细检查和评估。如有可能,此类患者应尽早进行矫正。

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