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VACTERL/TACRD综合征合并气管闭锁及支气管食管瘘

Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association.

作者信息

Mandrekar Suresh R S, Amoncar Sangeeta, Pinto R G W

机构信息

Department of Pathology, Goa Medical College, Bambolim, Goa, India.

出版信息

Indian J Hum Genet. 2013 Jan;19(1):87-9. doi: 10.4103/0971-6866.112910.

Abstract

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

摘要

气管闭锁(TA)是一种极其罕见的畸形。我们在此报告一例伴有弗洛伊德III型支气管食管瘘的TA尸检结果。存在的其他畸形包括喉闭锁、右肺肺叶发育不全、膜部室间隔缺损、双侧多囊性肾发育不良、类脾、梅克尔憩室和肛门闭锁。我们病例中出现的畸形组合与文献中先前描述的脊柱异常、肛门闭锁、心血管异常、气管食管瘘、食管闭锁、肾脏异常、肢体异常和气管闭锁或喉气管闭锁、心脏异常、肾脏异常、十二指肠闭锁综合征有重叠特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f57e/3722636/744aa57b4105/IJHG-19-87-g001.jpg

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