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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.

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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