Genetic Overview of Syndactyly and Polydactyly.
Genetic Overview of Syndactyly and Polydactyly.
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DOI：
10.1097/gox.0000000000001549
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发表时间：
2017-11
期刊：
影响因子：
--
通讯作者：
Akbari MR
中科院分区：
文献类型：
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作者：
Ahmed H;Akbari H;Emami A;Akbari MR
并指畸形和多指畸形-分别以融合和多余指为特征-是最常见的先天性肢体畸形，并指畸形的估计发病率为1/2，000 - 3，000活产，多指畸形的发生率为1/700- 1，000活产。尽管并指（趾）畸形和多指（趾）畸形的临床表现相对规律，但由于其表型和遗传多样性，其病因学仍知之甚少。此外，尽管已经建立了并指（趾）畸形和多指（趾）畸形的某些变异的基因型联系的具体知识，但似乎没有一个全面的已发表的所有综合征和非综合征并指（趾）畸形和多指（趾）畸形表现的总结，而且肯定没有资源将所有综合征和非综合征并指（趾）畸形和多指（趾）畸形映射到它们的遗传基础。文献中的这一空白使全面的携带者筛查和产前诊断成为问题，并使新的诊断尝试复杂化。因此，本综述试图收集所有已知的综合征和非综合征性并指和多指的遗传基础，以及突出的趾的表现，没有遗传基础是已知的。然后，建立了一个现有的和缺失的知识总结，这项工作简要概述了诊断技术，遗传学加强理解并指（趾）畸形和多指（趾）畸形可以告知。
Syndactyly and polydactyly—respectively characterized by fused and supernumerary digits—are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000–3,000 live births and polydactyly at a frequency of 1 in approximately 700–1,000 live births. Despite their relatively regular manifestation in the clinic, the etiologies of syndactyly and polydactyly remain poorly understood because of their phenotypic and genetic diversity. Further, even though concrete knowledge of genotypic links has been established for some variants of syndactyly and polydactyly, there appears to be no single comprehensive published summary of all syndromic and nonsyndromic syndactyly and polydactyly presentations, and there is decidedly no resource that maps all syndromic and nonsyndromic syndactylies and polydactylies to their genetic bases. This gap in the literature problematizes comprehensive carrier screening and prenatal diagnosis and complicates novel diagnostic attempts. This review thus attempts to collect all that is known about the genetic bases of syndromic and nonsyndromic syndactylies and polydactylies, as well as to highlight the dactyly manifestations for which no genetic bases are as yet known. Then, having established a summation of existing and missing knowledge, this work briefly outlines the diagnostic techniques that a genetics-reinforced understanding of syndactyly and polydactyly could inform.