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Lippen-Kiefer-Gaumen-Spalten

Cleft lip and palate

  • Schwerpunkt: Kinderpathologie
  • Published:
Der Pathologe Aims and scope Submit manuscript

Zusammenfassung

Hintergrund

Lippen‑, Kiefer‑, Gaumen-Spalten sind eine Gruppe von Fehlbildungen unterschiedlicher Genese bei ähnlichem Phänotyp. Daraus resultieren Konsequenzen für die Diagnostik, Therapie, Prophylaxe sowie die Prognose- und Risikoeinschätzung.

Fragestellung

Definition der Spaltformen und deren embryologischen Entwicklung, Erklärung der Zusammenhänge und Unterschiede der Entitäten anhand epidemiologischer Daten, Überblick über den Stand der genetischen Analyse, Korrelation mit Syndromen, Sequenzen und Assoziationen sowie der sich daraus ergebenden Konsequenzen für die klinische Praxis.

Material und Methoden

Aktualisierung der Erkenntnisse zur Entwicklung des Gesichts, Zusammenfassung epidemiologischer und genetischer Studien, Erörterung paidopathologischer und forensischer Aspekte.

Ergebnisse

Syndromale und nonsyndromale Lippen-Kiefer-Gaumen-Spalten unterscheiden sich bzgl. Ätiologie, Therapie und Prognose mit hoher Variabilität. Zum Verständnis müssen die verschiedenen Kollektive unterschieden werden. Neben speziellen Aspekten der Spaltfehlbildungen für den (Paido‑)Pathologen wird ein Überblick über die Thematik gegeben, der zum Verständnis dieser Fehlbildungen beitragen soll.

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.

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Author information

Authors and Affiliations

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

    A. Voigt & G. Schmidt

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

    A. Voigt & R. J. Radlanski

  3. Arbeitsbereich Paidopathologie und Plazentologie, Institut für Pathologie, Charité – Campus Mitte, Berlin, Deutschland

    N. Sarioglu

Authors
  1. A. Voigt
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  2. R. J. Radlanski
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  3. N. Sarioglu
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  4. G. Schmidt
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Corresponding author

Correspondence to A. Voigt.

Ethics declarations

Interessenkonflikt

A. Voigt, R. J. Radlanski, N. Sarioglu und G. Schmidt geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

Additional information

Schwerpunktherausgeberin

A. M. Müller, Bonn

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Voigt, A., Radlanski, R.J., Sarioglu, N. et al. Lippen-Kiefer-Gaumen-Spalten. Pathologe 38, 241–247 (2017). https://doi.org/10.1007/s00292-017-0313-x

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  • DOI: https://doi.org/10.1007/s00292-017-0313-x

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