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上肢的轴前多指畸形被视为胚胎发育事件严重程度的一个连续谱。

Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events.

作者信息

Al-Qattan Mohammad M

机构信息

Division of Plastic and Hand Surgery, King Saud University, Riyadh, Saudi Arabia.

出版信息

Ann Plast Surg. 2013 Jul;71(1):118-24. doi: 10.1097/SAP.0b013e318248b67f.

DOI:10.1097/SAP.0b013e318248b67f
PMID:23364674
Abstract

Preaxial polydactyly (PPD) is a common congenital abnormality and its classification varies among geneticists and hand surgeons. For example, the triphalangeal thumb, preaxial polysyndactyly, and the mirror hand deformity are considered as forms of PPD only in the genetics literature. Preaxial polydactyly is an error in the anteroposterior axis of the development of the upper limb. In this paper, the development of this axis is detailed and all molecular events that are known to lead to PPD are reviewed. Finally, based on the review, PPD is viewed as a spectrum of severity of embryonic events.

摘要

轴前多指(PPD)是一种常见的先天性异常,其分类在遗传学家和手外科医生之间存在差异。例如,三节指拇指、轴前多指并指以及镜手畸形仅在遗传学文献中被视为PPD的形式。轴前多指是上肢发育前后轴的一种异常。本文详细阐述了该轴的发育过程,并综述了所有已知导致PPD的分子事件。最后,基于该综述,PPD被视为一系列胚胎事件严重程度的表现。

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引用本文的文献

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Surgical Reconstruction for the Triphalangeal Thumb.三节指骨拇指的手术重建
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Preaxial Polydactyly in an Elderly Woman.一位老年女性的轴前多指畸形
Case Rep Orthop. 2022 Aug 31;2022:7031401. doi: 10.1155/2022/7031401. eCollection 2022.
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A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis.人类和实验动物并指畸形的遗传学和发病机制研究进展:发病机制的 3 步途径
Biomed Res Int. 2019 Sep 15;2019:9652649. doi: 10.1155/2019/9652649. eCollection 2019.
4
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.极性活动调节序列突变/重复导致的轴前多指和轴前长骨缺失表型:人类病例、动物模型的综述及发病机制的见解
Biomed Res Int. 2018 Feb 13;2018:1573871. doi: 10.1155/2018/1573871. eCollection 2018.
5
Presentation of soft tissue anatomy of mirror hand: an anatomical case report with implications for surgical planning.
Surg Radiol Anat. 2016 Sep;38(7):855-62. doi: 10.1007/s00276-015-1611-8. Epub 2016 Jan 19.
6
An unusual case of radial polydactyly, (tetraplication of the thumb, duplication of the radial carpal bones and bifurcation of the radius).一例罕见的桡侧多指畸形(拇指四联指、桡侧腕骨重复及桡骨分叉)。
Med J Islam Repub Iran. 2014 Jul 26;28:81. eCollection 2014.
7
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.中文译文:一个中国家庭的并指 IV 型和三叉手多指并指综合征的遗传同质性的确认及文献复习。
Eur J Pediatr. 2013 Nov;172(11):1467-73. doi: 10.1007/s00431-013-2071-y. Epub 2013 Jun 22.