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[唇腭裂]

[Cleft lip and palate].

作者信息

Voigt A, Radlanski R J, Sarioglu N, Schmidt G

机构信息

Arbeitsbereich Lippen‑, Kiefer‑, Gaumen-Spalten, Klinik für Mund‑, Kiefer‑, Gesichts-Chirurgie, Charité - Campus Virchow, Augustenburger Platz 1, 13353, Berlin, Deutschland.

Institut für orale Struktur und Entwicklungsbiologie, Charité - Campus Benjamin Franklin, Berlin, Deutschland.

出版信息

Pathologe. 2017 Jul;38(4):241-247. doi: 10.1007/s00292-017-0313-x.

DOI:10.1007/s00292-017-0313-x
PMID:28653248
Abstract

BACKGROUND

Cleft lip and palate (CLP) represents a group of malformations of unknown etiology but similar phenotypes. This implies consequences for the diagnostics, therapy, prevention, prognosis and risk estimation.

OBJECTIVE

Definition of CLP subtypes and the embryonic development, clarification of correlations and differences between entities using epidemiological data, overview of the present state of genetic analyses, correlation to syndromes, sequences and associations and resulting consequences for clinical practice.

MATERIAL AND METHODS

Update on embryological development of the face, summary of epidemiological and genetic studies and considerations on pedopathological and forensic aspects.

RESULTS

Syndromic and non-syndromic CLP exhibit different and highly variable etiologies, therapeutic needs and prognosis. A thorough understanding is mandatory to distinguish between the different subgroups. In addition to specific aspects of CLP for the pediatric (forensic) pathologist this article provides an overall view of the topic which aims to help understand these malformations.

摘要

背景

唇腭裂(CLP)是一组病因不明但表型相似的畸形。这对诊断、治疗、预防、预后和风险评估具有重要意义。

目的

定义CLP亚型和胚胎发育,利用流行病学数据阐明各实体之间的相关性和差异,概述基因分析的现状,与综合征、序列和关联的相关性以及对临床实践的影响。

材料与方法

更新面部胚胎发育情况,总结流行病学和遗传学研究,并考虑儿科病理学和法医方面的问题。

结果

综合征性和非综合征性CLP表现出不同且高度可变的病因、治疗需求和预后。必须深入了解才能区分不同的亚组。除了儿科(法医)病理学家关注的CLP特定方面外,本文还提供了该主题的整体视图,旨在帮助理解这些畸形。

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本文引用的文献

1
Identification of shared and unique gene families associated with oral clefts.鉴定与口腔裂相关的共有和独特基因家族。
Int J Oral Sci. 2017 Jun;9(2):104-109. doi: 10.1038/ijos.2016.56. Epub 2017 Jan 20.
2
Management and outcomes of obstructive sleep apnea in children with Robin sequence, a cross-sectional study.Robin 序列患儿阻塞性睡眠呼吸暂停的管理和结局:一项横断面研究。
Clin Oral Investig. 2017 Jul;21(6):1971-1978. doi: 10.1007/s00784-016-1985-y. Epub 2016 Nov 26.
3
Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.
降低与孕妇流感相关的出生缺陷风险:来自匈牙利一项病例对照研究的见解
J Clin Med. 2023 Nov 5;12(21):6934. doi: 10.3390/jcm12216934.
4
Orofacial clefts alter early life oral microbiome maturation towards higher levels of potentially pathogenic species: A prospective observational study.口腔颌面部裂隙会使早期生命中的口腔微生物群成熟向潜在致病物种的更高水平转变:一项前瞻性观察研究。
J Oral Microbiol. 2023 Jan 4;15(1):2164147. doi: 10.1080/20002297.2022.2164147. eCollection 2023.
5
First-Trimester Influenza Infection Increases the Odds of Non-Chromosomal Birth Defects: A Systematic Review and Meta-Analysis.早孕期流感感染增加非染色体出生缺陷的风险:系统评价和荟萃分析。
Viruses. 2022 Dec 2;14(12):2708. doi: 10.3390/v14122708.
6
Orofacial clefts lead to increased pro-inflammatory cytokine levels on neonatal oral mucosa.口腔颌面部裂导致新生儿口腔黏膜促炎细胞因子水平升高。
Front Immunol. 2022 Nov 16;13:1044249. doi: 10.3389/fimmu.2022.1044249. eCollection 2022.
7
Surgical rehabilitation of cleft lip and/or palate: evaluation of the Brazilian public health system.唇腭裂的手术康复:巴西公共卫生系统评估。
Braz J Otorhinolaryngol. 2022 Nov-Dec;88 Suppl 5(Suppl 5):S126-S132. doi: 10.1016/j.bjorl.2022.05.008. Epub 2022 Jun 8.
8
[Down-regulation of miR-381-3p inhibits osteogenic differentiation of mouse embryonic palatal mesenchymal cells in 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin-induced cleft palate of fetal mice].[miR-381-3p的下调抑制2,3,7,8-四氯二苯并对二噁英诱导的胎鼠腭裂中小鼠胚胎腭间充质细胞的成骨分化]
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2019 Sep 15;33(9):1174-1180. doi: 10.7507/1002-1892.201901028.
孕期母亲暴露于二手烟与主要出生缺陷之间的关联。
Am J Obstet Gynecol. 2016 Nov;215(5):613.e1-613.e11. doi: 10.1016/j.ajog.2016.07.022. Epub 2016 Jul 18.
4
Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.孤立性腭裂的流行病学、病因学及治疗
Front Physiol. 2016 Mar 1;7:67. doi: 10.3389/fphys.2016.00067. eCollection 2016.
5
Cleft Lip and Palate: An Evidence-Based Review.唇腭裂:基于证据的综述。
Facial Plast Surg Clin North Am. 2015 Aug;23(3):357-72. doi: 10.1016/j.fsc.2015.04.008. Epub 2015 Jun 12.
6
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?口腔裂相关结构和染色体缺陷的系统评价:何时需要进行产前基因分析?
J Med Genet. 2012 Aug;49(8):490-8. doi: 10.1136/jmedgenet-2012-101013.
7
Breakthroughs in the genetics of orofacial clefting.口腔颌面裂遗传学研究的突破。
Trends Mol Med. 2011 Dec;17(12):725-33. doi: 10.1016/j.molmed.2011.07.007. Epub 2011 Aug 30.
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The 'equals sign': a novel marker in the diagnosis of fetal isolated cleft palate.“等于号”:诊断胎儿孤立性腭裂的新标志物。
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Cleft Palate Craniofac J. 2011 Jan;48(1):66-81. doi: 10.1597/09-217. Epub 2010 Apr 6.
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Minor-form, microform, and mini-microform cleft lip: anatomical features, operative techniques, and revisions.微小唇裂、微型唇裂和超微型唇裂:解剖特征、手术技术及修复
Plast Reconstr Surg. 2008 Nov;122(5):1485-1493. doi: 10.1097/PRS.0b013e31818820bc.