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合并前腹壁缺损的并腿畸形:一例报告

Sirenomelia associated with an anterior abdominal wall defect: a case report.

作者信息

Kavunga Eric Kambale, Bunduki Gabriel Kambale, Mumbere Mupenzi, Masumbuko Claude Kasereka

机构信息

Centre de Santé de Référence de Kipese, Nord-Kivu, Democratic Republic of the Congo.

Department of Infectious Diseases, Faculty of Medicine, Université Catholique du Graben, PO Box 29, Butembo/Nord-Kivu, Democratic Republic of the Congo.

出版信息

J Med Case Rep. 2019 Jul 13;13(1):213. doi: 10.1186/s13256-019-2162-0.

Abstract

BACKGROUND

Sirenomelia is a rare and fatal congenital defect. The rarity of this case and its association with abdominal total wall defect drove us to report this case.

CASE PRESENTATION

We report a rare case of sirenomelia characterized by lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis with a rudimentary tail, and genitourinary and anorectal atresia. Coexistent anterior abdominal wall defect in this case highlights its fatalness because of complications associated with the malformation.

CONCLUSIONS

Sirenomelia syndrome has seldom been reported. The present case highlights the rare atypical association of sirenomelia with anterior abdominal wall defect. Because the investigations were done in a low-resource setting, the etiology regarding this case remains unclear.

摘要

背景

美人鱼综合征是一种罕见的致命性先天性缺陷。该病例的罕见性及其与腹部全层壁缺损的关联促使我们报告此病例。

病例介绍

我们报告了一例罕见的美人鱼综合征病例,其特征为下肢融合、胸腰椎脊柱异常、骶尾骨发育不全伴残余尾巴以及泌尿生殖系统和肛门直肠闭锁。该病例同时存在前腹壁缺损,由于与畸形相关的并发症,突出了其致命性。

结论

美人鱼综合征鲜有报道。本病例突出了美人鱼综合征与前腹壁缺损这种罕见的非典型关联。由于该研究是在资源匮乏的环境中进行的,该病例的病因仍不清楚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f1a0/6626367/c12a337dd3f8/13256_2019_2162_Fig1_HTML.jpg

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