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一名患有先天性异常综合征但未检测到基因突变的儿科患者的多学科管理

Multidisciplinary Management of a Pediatric Patient With Congenital Anomalies Syndrome Without an Identified Genetic Mutation.

作者信息

Song Sungmin, Louis Okoro Obioha

机构信息

Medicine, Trinity School of Medicine, Warner Robins, USA.

Pediatrics, Central Georgia Pediatrics, Georgia, USA.

出版信息

Cureus. 2024 Jul 14;16(7):e64530. doi: 10.7759/cureus.64530. eCollection 2024 Jul.

DOI:10.7759/cureus.64530
PMID:39139328
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11321745/
Abstract

Congenital anomalies syndrome without an identified genetic mutation often presents significant challenges in pediatric care, requiring coordinated efforts across multiple specialties. This case reports a 10-year-old female patient with complex medical conditions, which exemplifies the intricate nature of managing children, necessitating long-term follow-up and comprehensive care. This case report aims to provide an in-depth analysis of her medical journey, including various interventions like tracheostomy and G-tube placement, and management strategies employed to address her congenital anomalies and associated health issues.

摘要

未发现基因突变的先天性异常综合征在儿科护理中常常带来重大挑战，需要多个专科共同协作。本病例报告了一名患有复杂病症的10岁女性患者，体现了管理儿童病情的复杂性，需要长期随访和全面护理。本病例报告旨在深入分析她的就医历程，包括气管造口术和胃造瘘管置入等各种干预措施，以及为解决其先天性异常和相关健康问题所采用的管理策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdd8/11321745/277aa81b9e82/cureus-0016-00000064530-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdd8/11321745/277aa81b9e82/cureus-0016-00000064530-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fdd8/11321745/277aa81b9e82/cureus-0016-00000064530-i01.jpg

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本文引用的文献

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BMC Pediatr. 2022 Nov 4;22(1):636. doi: 10.1186/s12887-022-03705-4.
2
Evaluation and Risk Assessment of Congenital Anomalies in Neonates.新生儿先天性异常的评估与风险评估
Children (Basel). 2021 Sep 28;8(10):862. doi: 10.3390/children8100862.
3
Treacher Collins Syndrome: Genetics, Clinical Features and Management.特雷彻·柯林斯综合征：遗传学、临床特征与管理。
Genes (Basel). 2021 Sep 9;12(9):1392. doi: 10.3390/genes12091392.
4
Update on Pediatric Tracheostomy: Indications, Technique, Education, and Decannulation.小儿气管造口术的最新进展：适应症、技术、教育及拔管
Curr Otorhinolaryngol Rep. 2021;9(2):188-199. doi: 10.1007/s40136-021-00340-y. Epub 2021 Apr 15.
5
Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark.丹麦全国性产前筛查计划实施前后的多重先天性异常流行病学
Front Pediatr. 2021 Feb 5;9:614864. doi: 10.3389/fped.2021.614864. eCollection 2021.
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Investigation of the Paediatric Tracheostomy Decannulation: Factors Affecting Outcome.小儿气管造口脱管的研究：影响结果的因素
Iran J Otorhinolaryngol. 2020 May;32(110):139-145. doi: 10.22038/ijorl.2019.37265.2217.
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An efficient genetic test flow for multiple congenital anomalies and intellectual disability.一种用于多种先天畸形和智力障碍的高效遗传测试流程。
Pediatr Int. 2020 May;62(5):556-561. doi: 10.1111/ped.14159.
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Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?耳部畸形会给特雷彻·柯林斯综合征患者的生活质量带来不利影响吗？
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