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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.

DOI:10.7759/cureus.75400
PMID:39791075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11717324/
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/11717324/666a5e01fa20/cureus-0016-00000075400-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/26abb559840e/cureus-0016-00000075400-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/a74c3b09ff31/cureus-0016-00000075400-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/666a5e01fa20/cureus-0016-00000075400-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/26abb559840e/cureus-0016-00000075400-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/a74c3b09ff31/cureus-0016-00000075400-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/946c/11717324/666a5e01fa20/cureus-0016-00000075400-i03.jpg

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本文引用的文献

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Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study.VACTERL 协会患者的神经发育结局。基于人群的队列研究。
PLoS One. 2023 Jun 29;18(6):e0288061. doi: 10.1371/journal.pone.0288061. eCollection 2023.
2
Clinical Presentations and Diagnostic Imaging of VACTERL Association.VACTERL 联合征的临床表现和诊断影像学。
Fetal Pediatr Pathol. 2023 Aug;42(4):651-674. doi: 10.1080/15513815.2023.2206905. Epub 2023 May 17.
3
VACTERL syndrome with late presentation of annular pancreas with duodenal web: Case report.
伴有环状胰腺合并十二指肠蹼延迟表现的VACTERL综合征：病例报告
Radiol Case Rep. 2022 Apr 5;17(6):1853-1857. doi: 10.1016/j.radcr.2022.02.062. eCollection 2022 Jun.
4
VACTERL association in a fetus with multiple congenital malformations - Case report.胎儿多发先天畸形中的 VACTERL 综合征 - 病例报告。
J Med Life. 2021 Nov-Dec;14(6):862-867. doi: 10.25122/jml-2021-0346.
5
Maternal risk associated with the VACTERL association: A case-control study.母体相关风险与 VACTERL 协会：病例对照研究。
Birth Defects Res. 2020 Nov;112(18):1495-1504. doi: 10.1002/bdr2.1773. Epub 2020 Jul 22.
6
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.VACTERL 病例中先天性畸形的谱系：一项基于 EUROCAT 的人群研究。
Pediatr Res. 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9.
7
The etiology of VACTERL association: Current knowledge and hypotheses.VACTERL 协会的病因：现有知识和假说。
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664.
8
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.VATER/VACTERL综合征的潜在遗传因素，特别关注“肾脏”表型
Pediatr Nephrol. 2016 Nov;31(11):2025-33. doi: 10.1007/s00467-016-3335-3. Epub 2016 Feb 8.
9
VACTERL/VATER Association.VACTERL/VATER 联合征。
Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56.