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多指(趾)畸形合并脊柱裂的病例报告

Presentation of polymelia in conjugation with spinal dysraphism: A case report.

作者信息

Yassin Amin M, Mohamed Momen, Hamid Moutaz

机构信息

Department of Plastic Surgery, Omdurman Teaching Hospital, Khartoum, Sudan.

Department of Plastic Surgery, Omdurman Teaching Hospital, Khartoum, Sudan.

出版信息

Int J Surg Case Rep. 2025 Jan;126:110683. doi: 10.1016/j.ijscr.2024.110683. Epub 2024 Nov 28.

DOI:10.1016/j.ijscr.2024.110683
PMID:39616746
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11648261/
Abstract

INTRODUCTION AND IMPORTANCE

Polymelia is a rare congenital deformity characterized by an extra limb connected to a different part of the body. The Incidence of this condition in humans is scant but relatively higher in animals. Hereditary and genetic factors are linked to the pathogenesis of this condition, but the relationship is not clearly understood. In this article, we highlight the presentation of polymelia and the approach used to treat the patient.

CASE PRESENTATION

A 3-month-old male was brought to medical attention by his parents, who expressed concern regarding an extra limb attached to his back. He was born via spontaneous vaginal delivery after an uncomplicated pregnancy, with the only significant finding being the additional limb. After a thorough evaluation by a multidisciplinary team, he was diagnosed with Polymelia associated with spinal dysraphism. The child underwent surgery to excise the extra limb and to seal the defect in the vertebrae.

CLINICAL DISSECTION

Polymelia is associated with multiple congenital malformations. Although it can be diagnosed in the antenatal period, most cases are identified after birth. The extra limb is usually functionless, but sensation may be preserved. It may be a well-developed limb or just a bud. A comprehensive evaluation is mandatory to explore the associated hidden malformation.

CONCLUSION

The expression of polymelia differs among individual case presentations, and the related congenital abnormalities pose significant management challenges. Surgical intervention is always essential, yet some complications are inevitable.

摘要

引言与重要性

多指(或趾)畸形是一种罕见的先天性畸形,其特征为有一个额外的肢体连接到身体的不同部位。这种情况在人类中的发病率很低,但在动物中相对较高。遗传和基因因素与这种疾病的发病机制有关,但这种关系尚未完全明确。在本文中,我们重点介绍多指(或趾)畸形的表现以及用于治疗该患者的方法。

病例介绍

一名3个月大的男婴因其父母的关注而就医,其父母对他背部附着的一个额外肢体表示担忧。他是在一次无并发症的妊娠后经阴道自然分娩出生的,唯一显著的发现就是这个额外的肢体。经过多学科团队的全面评估,他被诊断为与脊柱裂相关的多指(或趾)畸形。该患儿接受了手术,切除了额外的肢体并封闭了椎骨缺损。

临床剖析

多指(或趾)畸形与多种先天性畸形相关。虽然它可以在产前诊断,但大多数病例是在出生后才被发现。额外的肢体通常没有功能,但可能保留感觉。它可能是一个发育良好的肢体,也可能只是一个芽状结构。必须进行全面评估以探究相关的隐藏畸形。

结论

多指(或趾)畸形在个体病例表现中的表现各不相同,相关的先天性异常带来了重大的管理挑战。手术干预总是必不可少的,但一些并发症是不可避免的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/c633a1a96cb9/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/b620cce116c9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/cff237333e40/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/fd6ca3a71628/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/3c354546cb6c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/c633a1a96cb9/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/b620cce116c9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/cff237333e40/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/fd6ca3a71628/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/3c354546cb6c/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f57/11648261/c633a1a96cb9/gr5.jpg

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Congenital incomplete duplication of lower extremity (polymelia) accompanied with anorectal malformation and unilateral deafness.先天性下肢不完全重复畸形(多肢畸形)伴肛门直肠畸形和单侧耳聋。
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