Department of Surgery, Children's Hospital Los Angeles, and Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA.
J Pediatr Surg. 2011 Jul;46(7):1432-4. doi: 10.1016/j.jpedsurg.2011.01.024.
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.
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。
