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皮纹作为泰尔哈绍默弯曲指综合征生物标志物的研究现状:文献综述

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

作者信息

Wijerathne Buddhika T B, Meier Robert J, Agampodi Suneth B

机构信息

Department of Community Medicine, Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, 50008, Anuradhapura, Sri Lanka.

Department of Anthropology, Indiana University, Bloomington, IN, 47405, USA.

出版信息

J Med Case Rep. 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7.

DOI:10.1186/s13256-016-1048-7
PMID:27650795
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5030737/
Abstract

INTRODUCTION

Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being formed into discernable patterns. Consequently, these intrauterine effects might well have occurred in association with the expression of the Tel Hashomer camptodactyly syndrome. Therefore, this review was undertaken to provide, as far as we know, the first attempt to broadly assess dermatoglyphic features that are connected with the Tel Hashomer camptodactyly syndrome. If a developmental association between dermatoglyphics and Tel Hashomer camptodactyly can be firmly established, this would probably document that Tel Hashomer camptodactyly disease has its origins during the early fetal period.

METHODS

A systematic literature search was conducted using articles from PubMed (Medline), POPLINE, Trip Database, Cochrane Library, and gray literature up to 31 March 2015. The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.

RESULTS

Fourteen relevant publications were included in the review. There were 23 cases of patients with Tel Hashomer camptodactyly syndrome that were described in these published articles. We reviewed the dermatoglyphics of 21 available cases out of all of the published and electronically available cases of Tel Hashomer camptodactyly. Eight cases reported whorls to be the most common digital pattern with an expected rise of ridge count. Two cases show significantly high frequencies of arch patterns. Further, there were increased numbers of palmar creases, along with abnormal flexion creases or other palmar dermatoglyphic abnormalities reported in all cases.

CONCLUSION

This review highlighted the desirability of thoroughly observing and recording dermatoglyphic features when reporting on future patients with Tel Hashomer camptodactyly syndrome, in conjunction with carrying out modern molecular methods.

摘要

引言

泰尔哈绍梅尔屈曲指综合征是一种罕见疾病,仅有少数病例报道。皮纹学有可能提供相关的表型生物标志物,最初它被视为该疾病的一项重要临床特征。皮纹学可能指示了在胎儿早期发育阶段,即表皮嵴形成可识别图案时发生的生长紊乱。因此,这些子宫内效应很可能与泰尔哈绍梅尔屈曲指综合征的表现有关。所以,据我们所知,本综述首次广泛评估了与泰尔哈绍梅尔屈曲指综合征相关的皮纹特征。如果皮纹学与泰尔哈绍梅尔屈曲指之间的发育关联能够得到确切证实,这可能会证明泰尔哈绍梅尔屈曲指疾病起源于胎儿早期。

方法

使用截至2015年3月31日来自PubMed(医学索引)、POPLINE、Trip数据库、Cochrane图书馆以及灰色文献的文章进行系统的文献检索。本综述按照系统评价和Meta分析的首选报告项目声明进行。

结果

该综述纳入了14篇相关出版物。这些已发表文章中描述了23例泰尔哈绍梅尔屈曲指综合征患者。我们回顾了所有已发表及可通过电子方式获取的泰尔哈绍梅尔屈曲指病例中21例可用病例的皮纹情况。8例报告称涡状纹是最常见的指纹图案,且嵴纹计数预期增加。2例显示弓形纹频率显著较高。此外,所有病例均报告手掌褶痕数量增加,伴有异常屈曲褶痕或其他手掌皮纹异常。

结论

本综述强调,在报告未来的泰尔哈绍梅尔屈曲指综合征患者时,结合现代分子方法,全面观察和记录皮纹特征是很有必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e942/5030737/51a8c0925545/13256_2016_1048_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e942/5030737/51a8c0925545/13256_2016_1048_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e942/5030737/51a8c0925545/13256_2016_1048_Fig1_HTML.jpg

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本文引用的文献

1
Is Tel Hashomer camptodactyly a distinct clinical entity?泰尔哈绍梅尔先天性屈曲指是一种独特的临床实体吗?
Am J Med Genet A. 2015 Jan;167A(1):255-8. doi: 10.1002/ajmg.a.36826. Epub 2014 Oct 27.
2
Tel Hashomer camptodactyly syndrome: a case report.特尔哈绍默屈曲指综合征:一例报告。
West Indian Med J. 2013 Jan;62(1):81-3.
3
Tel Hashomer camptodactyly syndrome in identical twin infants.同卵双胞胎婴儿的泰尔哈绍梅尔弯曲指综合征
Clin Dysmorphol. 2011 Oct;20(4):214-216. doi: 10.1097/MCD.0b013e32834a044f.
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Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement.系统评价与Meta分析优先报告条目:PRISMA声明
PLoS Med. 2009 Jul 21;6(7):e1000097. doi: 10.1371/journal.pmed.1000097.
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Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family.一个印度家庭中伴有多毛症的泰尔-哈绍梅尔屈曲指综合征。
J Assoc Physicians India. 2004 Oct;52:837-8.
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Tel Hashomer camptodactyly syndrome: 12-year follow-up of a Hungarian patient and review.特尔哈绍默屈曲指综合征:一名匈牙利患者的12年随访及综述
Am J Med Genet A. 2005 Jun 15;135(3):320-3. doi: 10.1002/ajmg.a.30736.
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[The Tel Hashomer camptodactyly syndrome].
Zh Nevrol Psikhiatr Im S S Korsakova. 1995;95(4):83-6.
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Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.泰尔哈绍梅尔屈曲指综合征合并腹股沟疝和房间隔缺损:1例新病例报告,扩展了该疾病的表型谱。
Am J Med Genet. 1993 May 15;46(3):341-4. doi: 10.1002/ajmg.1320460320.
9
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Prog Clin Biol Res. 1982;104:269-77.
10
The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.一个巴西近亲家庭中的泰尔哈绍梅尔屈曲指综合征
Am J Med Genet. 1984 Feb;17(2):399-406. doi: 10.1002/ajmg.1320170203.