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一例表现为VACTERL综合征样关联的新生儿病例。

A Case of a Newborn Presenting With a VACTERL-Like Association.

作者信息

Delgado John, Atkins Logan, Pippin Micah, Jishu Jessan

机构信息

Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.

Family Medicine, Rapides Regional Medical Center, Alexandria, USA.

出版信息

Cureus. 2024 Dec 9;16(12):e75400. doi: 10.7759/cureus.75400. eCollection 2024 Dec.

Abstract

The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome. This study aims to serve as a primer for intellectual inquiry in recognizing and understanding the VACTERL association among healthcare professionals.

摘要

VACTERL(脊柱缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏异常和肢体异常)综合征是一种神秘的综合征,需要进一步研究。本报告描述了一名经产妇足月分娩的新生儿,经进一步检查发现其患有多种先天性异常,包括二尖瓣主动脉瓣、卵圆孔未闭、气管食管瘘(TEF)、不对称哭泣面容、小阴茎和单侧腹股沟睾丸。讨论探讨了可能导致这种综合征的环境和遗传因素,以及类似的病症,如CHARGE(眼裂、心脏缺陷、后鼻孔闭锁、生长发育迟缓、生殖器异常和耳部异常)综合征。本研究旨在为医疗保健专业人员认识和理解VACTERL综合征提供知识探索的入门指导。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/26abb559840e/cureus-0016-00000075400-i01.jpg

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