• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

多肢畸形(胸段多肢),一名尼泊尔儿童先天性肢体异常的极其罕见表现及其胚胎学基础。

Polymelia (thoracomelia), an extremely rare appearance of congenital anomalic limb in a Nepalese child and its embryological basis.

作者信息

Jha Ameet Kumar, Nauhria Samal, Maity Sabyasachi

机构信息

Department of Anatomical Sciences, St. Matthew's University School of Medicine, Georgetown, Cayman Islands.

Department of Pathology, St. Matthew's University School of Medicine, Georgetown, Cayman Islands.

出版信息

Anat Cell Biol. 2023 Dec 31;56(4):584-587. doi: 10.5115/acb.23.179. Epub 2023 Sep 27.

DOI:10.5115/acb.23.179
PMID:37752113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10714075/
Abstract

Polymelia is an extremely rare congenital anomaly where an individual is born with an abnormally developed extra or supernumerary limb which is generally shrunken and functionless. A case of thoracomelia (a type of polymelia) was observed macroscopically and confirmed radiologically in 1.5 years old boy born in Nepal with an abnormal supernumerary upper limb attached to his back in the thoracic region. The limb was successfully amputated, and the boy had a favorable outcome after surgical treatment, without any adverse effects or impairment. Understanding the embryogenesis of thoracomelia is essential for unraveling the complex mechanisms underlying this condition and potentially aiding in early diagnosis and intervention. This case report and review aims to shed light on the intricate processes governing forelimb formation and their perturbations leading to thoracomelia.

摘要

多肢畸形是一种极其罕见的先天性异常,即个体出生时带有发育异常的多余肢体,通常萎缩且无功能。在一名出生于尼泊尔的1.5岁男孩身上,肉眼观察到并经放射学确认了一例胸段多肢畸形(多肢畸形的一种类型),其胸部区域的背部附着有一个异常的多余上肢。该肢体成功进行了截肢手术,男孩术后恢复良好,未出现任何不良反应或功能障碍。了解胸段多肢畸形的胚胎发生对于阐明这种疾病背后的复杂机制以及可能有助于早期诊断和干预至关重要。本病例报告及综述旨在阐明控制前肢形成的复杂过程及其导致胸段多肢畸形的扰动。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2621/10714075/a4128a385549/acb-56-4-584-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2621/10714075/dcd9967b020a/acb-56-4-584-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2621/10714075/a4128a385549/acb-56-4-584-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2621/10714075/dcd9967b020a/acb-56-4-584-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2621/10714075/a4128a385549/acb-56-4-584-f2.jpg

相似文献

1
Polymelia (thoracomelia), an extremely rare appearance of congenital anomalic limb in a Nepalese child and its embryological basis.多肢畸形(胸段多肢),一名尼泊尔儿童先天性肢体异常的极其罕见表现及其胚胎学基础。
Anat Cell Biol. 2023 Dec 31;56(4):584-587. doi: 10.5115/acb.23.179. Epub 2023 Sep 27.
2
Incomplete duplication of a lower extremity (polymelia): a case report.下肢不完全重复畸形(多指(肢)畸形):一例报告
J Med Case Rep. 2014 Jun 12;8:184. doi: 10.1186/1752-1947-8-184.
3
Amputation of polymelia in a layer chicken.
Avian Dis. 2014 Jun;58(2):330-2. doi: 10.1637/10682-100413-Case.1.
4
Polymelia with unhealed navel in an Iranian indigenous young fowl.一只伊朗本土幼禽出现多肢畸形且肚脐未愈合的情况。
Vet Res Forum. 2017 Winter;8(1):85-87. Epub 2017 Mar 15.
5
Polymelia in a chimeric Simmental calf: nociceptive withdrawal reflex, anaesthetic and analgesic management, anatomic and genetic analysis.一头嵌合西门塔尔小牛的多肢畸形:伤害性退缩反射、麻醉和镇痛管理、解剖学和遗传学分析
BMC Vet Res. 2019 Mar 29;15(1):102. doi: 10.1186/s12917-019-1846-4.
6
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。
Clin Case Rep. 2024 Jun 24;12(7):e9119. doi: 10.1002/ccr3.9119. eCollection 2024 Jul.
7
Polymelia with two extra forelimbs at the right scapular region in a male Korean native calf.一头韩国本土雄性小牛右肩胛区域出现多肢畸形,伴有两条额外的前肢。
J Vet Med Sci. 2001 Oct;63(10):1161-4. doi: 10.1292/jvms.63.1161.
8
First report of polymelia and a rudimentary wing in a Nigerian Nera black chicken.尼日利亚内拉黑鸡出现多指(或趾)畸形和残翅的首例报告。
J S Afr Vet Assoc. 2013 Nov 27;84(1). doi: 10.4102/jsava.v84i1.1082.
9
The Management of Pyromelic Polymelia in a Low-resource Setting: A Case Report.资源匮乏地区火激性多指(趾)畸形的管理:一例报告
J Orthop Case Rep. 2023 Sep;13(9):57-60. doi: 10.13107/jocr.2023.v13.i09.3876.
10
Polymelia in a broiler chicken.一只肉鸡出现的多肢畸形。
Avian Dis. 1985 Jan-Mar;29(1):244-5.

本文引用的文献

1
Wnt Signaling Coordinates the Expression of Limb Patterning Genes During Axolotl Forelimb Development and Regeneration.Wnt信号通路在蝾螈前肢发育和再生过程中协调肢体模式基因的表达。
Front Cell Dev Biol. 2022 Apr 21;10:814250. doi: 10.3389/fcell.2022.814250. eCollection 2022.
2
Polymelia in a chimeric Simmental calf: nociceptive withdrawal reflex, anaesthetic and analgesic management, anatomic and genetic analysis.一头嵌合西门塔尔小牛的多肢畸形:伤害性退缩反射、麻醉和镇痛管理、解剖学和遗传学分析
BMC Vet Res. 2019 Mar 29;15(1):102. doi: 10.1186/s12917-019-1846-4.
3
Notomelia and related neural tube defects in a baby born in Niger: case report and literature review.
尼日尔一名新生儿的背侧肢体发育不全及相关神经管缺陷:病例报告与文献综述
Childs Nerv Syst. 2017 Mar;33(3):529-534. doi: 10.1007/s00381-017-3337-x. Epub 2017 Jan 12.
4
An accessory limb with an imperforate anus.一个伴有肛门闭锁的副肢体。
Ann Surg Treat Res. 2014 Oct;87(4):213-6. doi: 10.4174/astr.2014.87.4.213. Epub 2014 Sep 25.
5
Incomplete duplication of a lower extremity (polymelia): a case report.下肢不完全重复畸形(多指(肢)畸形):一例报告
J Med Case Rep. 2014 Jun 12;8:184. doi: 10.1186/1752-1947-8-184.
6
Occurrence of polymelia in a female child.一名女童发生多指(或多肢)畸形。
J Clin Imaging Sci. 2013 Apr 30;3:18. doi: 10.4103/2156-7514.111235. Print 2013.
7
Congenital lumbosacral limb duplication: a case report.先天性腰骶部肢体重复畸形:一例报告
J Orthop Surg (Hong Kong). 2006 Aug;14(2):187-91. doi: 10.1177/230949900601400216.
8
The limb bud Shh-Fgf feedback loop is terminated by expansion of former ZPA cells.肢体芽中的 Sonic Hedgehog(Shh)-成纤维细胞生长因子(Fgf)反馈回路通过先前极化活性区(ZPA)细胞的扩张而终止。
Science. 2004 Jul 16;305(5682):396-9. doi: 10.1126/science.1096966.
9
Polymelia with two extra forelimbs at the right scapular region in a male Korean native calf.一头韩国本土雄性小牛右肩胛区域出现多肢畸形,伴有两条额外的前肢。
J Vet Med Sci. 2001 Oct;63(10):1161-4. doi: 10.1292/jvms.63.1161.
10
The genetics of human limb development.人类肢体发育的遗传学
Am J Hum Genet. 1994 Jul;55(1):1-6.