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从放射学和临床角度看尾椎退化综合征:病例系列及一种新的综合诊断算法建议

Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm.

作者信息

Purbasari Utami, Nazar Helda, Miraj Faisal, Aprilia Dina, Widiani Wini, Suprihatin Media, Eureka Agnes Nina

机构信息

Department of Radiology, Fatmawati General Hospital, South Jakarta, Special Capital District of Jakarta, Indonesia.

Faculty of Public Health, University of Indonesia, Jl. Lingkar Kampus Raya Universitas Indonesia, Depok, West Java, 16424, Indonesia.

出版信息

Radiol Case Rep. 2023 May 12;18(7):2478-2486. doi: 10.1016/j.radcr.2023.04.015. eCollection 2023 Jul.

DOI:10.1016/j.radcr.2023.04.015
PMID:37235076
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10206380/
Abstract

Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.

摘要

尾椎退化综合征(CRS)是一种罕见的遗传性疾病,与骨科畸形以及泌尿系统、肛肠和脊柱畸形相关。我们报告了在我院发现的3例CRS病例,以及该疾病各自的放射学和临床发现。由于每个病例存在不同问题和主要诉求,我们提出了一种诊断算法,可作为管理CRS的有用工具。CRS是一种复杂且罕见的先天性疾病,会影响多个系统,并可能导致一系列畸形。根据我们对3例CRS病例的研究结果提出的诊断算法,对于帮助医疗服务提供者识别CRS类型并采用更个性化的方法来提高患者生活质量具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/0f734c2deb26/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/1c63489fd114/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/3d93b35e5ae2/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/74d98be2ac50/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/1795c3dcb17c/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/0f734c2deb26/gr8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/1c63489fd114/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/3d93b35e5ae2/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/74d98be2ac50/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/1795c3dcb17c/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8aba/10206380/0f734c2deb26/gr8.jpg

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本文引用的文献

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2
Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III.一名III型尾椎退化综合征婴儿的临床及影像学特征
Case Rep Neurol Med. 2020 Oct 26;2020:8827281. doi: 10.1155/2020/8827281. eCollection 2020.
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Caudal Regression Syndrome.尾椎退化综合征
尾部退化综合征的临床和放射学评估。
Pediatr Radiol. 2024 Aug;54(9):1451-1461. doi: 10.1007/s00247-024-05945-1. Epub 2024 May 16.
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A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.一名患有尾椎退化综合征和阴道远端闭锁的13岁女孩:病例报告
Am J Case Rep. 2024 Feb 20;25:e942748. doi: 10.12659/AJCR.942748.
Children (Basel). 2020 Nov 4;7(11):211. doi: 10.3390/children7110211.
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Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis).尾部退化综合征(脊髓胸腰骶尾椎发育不全)。
World Neurosurg. 2020 Oct;142:301-302. doi: 10.1016/j.wneu.2020.07.055. Epub 2020 Jul 17.
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