Suppr超能文献

一个珍贵的谜题:揭示一名28日龄新生儿疑似VACTERL(脊柱、肛门、心血管畸形、气管食管瘘、肾脏异常和肢体缺陷)综合征。

A Precious Puzzle: Unveiling a Suspected VACTERL (Vertebral, Anal, Cardiovascular Malformations, Tracheo-esophageal Fistula, Renal Anomalies, and Limb Defects) Association in a 28-Day-Old Neonate.

作者信息

Shabnam Asfia, Vasugi Arumugam, Dennis Joseph Leena, Rajan Raja, T Mitila

机构信息

Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

出版信息

Cureus. 2024 Sep 25;16(9):e70143. doi: 10.7759/cureus.70143. eCollection 2024 Sep.

Abstract

VACTERL is an acronym that stands for a wide range of congenital anomalies, including vertebral anomalies, tracheoesophageal fistula, anorectal anomalies (anal atresia), cardiac anomalies, renal anomalies, and limb malformations. While not a true syndrome, the co-occurrence of these findings suggests a common underlying cause. Here, we present a case of a 28-day-old neonate with suspected VACTERL association. The baby was delivered preterm to non-consanguineous parents. The baby had vertebral abnormalities, renal defects, an imperforate anus, a posterior urethral valve, and an absent right pulmonary artery. The current case report emphasizes the critical role of pathologists who specialize in the dissection and confirmation of fetal anomalies as members of the multidisciplinary team that manages complex pregnancies with this type of abnormality.

摘要

VACTERL是一个首字母缩略词,代表一系列先天性异常,包括脊柱异常、气管食管瘘、肛门直肠异常(肛门闭锁)、心脏异常、肾脏异常和肢体畸形。虽然它并非真正的综合征,但这些表现同时出现提示存在共同的潜在病因。在此,我们报告一例疑似患有VACTERL综合征的28日龄新生儿病例。该婴儿为非近亲结婚的父母所生的早产儿。婴儿存在脊柱异常、肾脏缺陷、肛门闭锁、后尿道瓣膜以及右肺动脉缺如。本病例报告强调了专门从事胎儿异常解剖和确诊工作的病理学家作为管理此类复杂妊娠多学科团队成员的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e5b/11503426/eeebc67f5fe8/cureus-0016-00000070143-i03.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验