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Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal

Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare gen...

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Autores principales: Salerno, Claudia, D’Avola, Valeria, Oberti, Luca, Almonte, Elena, Bazzini, Elena Maria, Tartaglia, Gianluca Martino, Cagetti, Maria Grazia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774676/
https://www.ncbi.nlm.nih.gov/pubmed/35053637
http://dx.doi.org/10.3390/children9010012
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author Salerno, Claudia
D’Avola, Valeria
Oberti, Luca
Almonte, Elena
Bazzini, Elena Maria
Tartaglia, Gianluca Martino
Cagetti, Maria Grazia
author_facet Salerno, Claudia
D’Avola, Valeria
Oberti, Luca
Almonte, Elena
Bazzini, Elena Maria
Tartaglia, Gianluca Martino
Cagetti, Maria Grazia
author_sort Salerno, Claudia
collection PubMed
description Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team.
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spelling pubmed-87746762022-01-21 Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal Salerno, Claudia D’Avola, Valeria Oberti, Luca Almonte, Elena Bazzini, Elena Maria Tartaglia, Gianluca Martino Cagetti, Maria Grazia Children (Basel) Review Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team. MDPI 2021-12-26 /pmc/articles/PMC8774676/ /pubmed/35053637 http://dx.doi.org/10.3390/children9010012 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Salerno, Claudia
D’Avola, Valeria
Oberti, Luca
Almonte, Elena
Bazzini, Elena Maria
Tartaglia, Gianluca Martino
Cagetti, Maria Grazia
Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title_full Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title_fullStr Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title_full_unstemmed Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title_short Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal
title_sort rare genetic syndromes and oral anomalies: a review of the literature and case series with a new classification proposal
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774676/
https://www.ncbi.nlm.nih.gov/pubmed/35053637
http://dx.doi.org/10.3390/children9010012
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