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婴儿右侧先天性膈疝、肝肺融合、十二指肠闭锁和肛门闭锁。

Right-sided congenital diaphragmatic hernia, hepatic pulmonary fusion, duodenal atresia, and imperforate anus in an infant.

机构信息

Department of Surgery, Children's Hospital Los Angeles, and Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA.

出版信息

J Pediatr Surg. 2011 Jul;46(7):1432-4. doi: 10.1016/j.jpedsurg.2011.01.024.

Abstract

We present a case of a neonate with VACTERL-like association, with the VACTERL association defined as the non-random association of vertebral, anal, cardiac, esophageal, renal/kidney, and limb defects, as manifested by a hemivertebra, imperforate anus, and digit anomalies, in rare association with duodenal atresia and right-sided diaphragmatic hernia. This constellation is previously undescribed and may offer insight into the pathogenesis of VACTERL and associated birth defects.

摘要

我们报告了一例具有 VACTERL 样综合征的新生儿病例,VACTERL 综合征的定义为椎体、肛门、心脏、食管、肾脏/肾和肢体缺陷的非随机联合,表现为半椎体、肛门闭锁和指(趾)畸形,罕见情况下还伴有十二指肠闭锁和右侧膈疝。这种组合以前没有描述过,可能有助于了解 VACTERL 及相关先天畸形的发病机制。

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