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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.

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

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