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一名37周胎儿的C型气管食管瘘、室间隔缺损和巨结肠——病例报告

Type C tracheoesophageal fistula, ventricular septal defect, and megacolon in a 37-week fetus - A case report.

作者信息

Vij Inesh, Punja Rohini, Mishra Madhumita, Adhikari Purnima, Punja Dhiren

机构信息

Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India.

Department of Anatomy, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India.

出版信息

Int J Surg Case Rep. 2025 Aug;133:111631. doi: 10.1016/j.ijscr.2025.111631. Epub 2025 Jul 7.

Abstract

BACKGROUND

Congenital anomalies affecting multiple organ systems require thorough anatomical documentation to advance our understanding of developmental variations and guide clinical management strategies. The objective was to document comprehensive anatomical findings in a 37-week female fetus with multiple congenital anomalies, emphasizing the importance of thorough evaluation.

CASE PRESENTATION

Comprehensive cadaveric dissection was performed on a preserved 37-week female fetus with antenatal history of congenital abnormalities. Dissection revealed three significant anomalies: Type C tracheoesophageal fistula with proximal esophageal atresia, a 3 mm muscular ventricular septal defect, and significant colonic dilation. The anus was patent with normal external appearance. Radiological examination showed normal vertebral alignment. The urinary system and limbs demonstrated no apparent malformations.

DISCUSSION

This case presents the co-occurrence of three significant congenital anomalies affecting different embryological developmental windows. The temporal overlap of organogenesis during weeks 4-8 of gestation explains the potential for multiple system involvement. Clinical implications include the need for immediate neonatal surgical intervention, long-term multidisciplinary care, and comprehensive family counselling regarding prognosis and management.

CONCLUSIONS

This case demonstrates the importance of comprehensive anatomical evaluation in fetuses with congenital anomalies and provides specific insights for clinical management. The findings support current understanding of developmental field defects and emphasize the need for standardized evaluation protocols in similar cases. Future research should focus on genetic analysis, long-term outcome studies, and development of evidence-based management guidelines for complex multi-organ anomalies.

摘要

背景

影响多个器官系统的先天性异常需要全面的解剖学记录,以增进我们对发育变异的理解并指导临床管理策略。目的是记录一名患有多种先天性异常的37周龄女胎的全面解剖学发现,强调全面评估的重要性。

病例报告

对一名有先天性异常产前病史的保存完好的37周龄女胎进行了全面的尸体解剖。解剖发现三个重大异常:C型食管气管瘘伴近端食管闭锁、3毫米的肌部室间隔缺损和明显的结肠扩张。肛门通畅,外观正常。放射学检查显示脊柱排列正常。泌尿系统和四肢未显示明显畸形。

讨论

本病例呈现了影响不同胚胎发育窗口的三种重大先天性异常同时出现的情况。妊娠第4至8周期间器官发生的时间重叠解释了多系统受累的可能性。临床意义包括需要立即进行新生儿手术干预、长期多学科护理以及就预后和管理进行全面的家庭咨询。

结论

本病例证明了对先天性异常胎儿进行全面解剖学评估的重要性,并为临床管理提供了具体见解。这些发现支持了目前对发育场缺陷的理解,并强调了在类似病例中制定标准化评估方案的必要性。未来的研究应侧重于基因分析、长期结局研究以及为复杂多器官异常制定循证管理指南。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37ed/12284648/3cd1ccffd623/gr1.jpg

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