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Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton
ABSTRACT: Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesio...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108962/ https://www.ncbi.nlm.nih.gov/pubmed/29766474 http://dx.doi.org/10.1007/s13244-018-0623-4 |
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author | Stefanelli, Salvatore Mundada, Pravin Rougemont, Anne-Laure Lenoir, Vincent Scolozzi, Paolo Merlini, Laura Becker, Minerva |
author_facet | Stefanelli, Salvatore Mundada, Pravin Rougemont, Anne-Laure Lenoir, Vincent Scolozzi, Paolo Merlini, Laura Becker, Minerva |
author_sort | Stefanelli, Salvatore |
collection | PubMed |
description | ABSTRACT: Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract. This article provides a comprehensive approach for the evaluation of children with masses or mass-like lesions of developmental and genetic origin affecting the craniofacial skeleton. Typical findings are illustrated and the respective roles of computed tomography (CT), cone beam CT (CBCT), magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) sequences and ultrasonography (US) are discussed for the pre-therapeutic assessment, complex treatment planning and post-treatment surveillance. Key imaging findings and characteristic clinical manifestations are reviewed. Pitfalls of image interpretation are addressed and how to avoid them. TEACHING POINTS: • Masses of developmental and genetic origin may severely impair the craniofacial skeleton. • Although rare, these lesions have characteristic imaging features. • CT, MRI and ultrasonography play a key role in their work-up. • Recognition of pivotal imaging pearls and diagnostic pitfalls avoids interpretation errors. |
format | Online Article Text |
id | pubmed-6108962 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-61089622018-08-31 Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton Stefanelli, Salvatore Mundada, Pravin Rougemont, Anne-Laure Lenoir, Vincent Scolozzi, Paolo Merlini, Laura Becker, Minerva Insights Imaging Review ABSTRACT: Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract. This article provides a comprehensive approach for the evaluation of children with masses or mass-like lesions of developmental and genetic origin affecting the craniofacial skeleton. Typical findings are illustrated and the respective roles of computed tomography (CT), cone beam CT (CBCT), magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) sequences and ultrasonography (US) are discussed for the pre-therapeutic assessment, complex treatment planning and post-treatment surveillance. Key imaging findings and characteristic clinical manifestations are reviewed. Pitfalls of image interpretation are addressed and how to avoid them. TEACHING POINTS: • Masses of developmental and genetic origin may severely impair the craniofacial skeleton. • Although rare, these lesions have characteristic imaging features. • CT, MRI and ultrasonography play a key role in their work-up. • Recognition of pivotal imaging pearls and diagnostic pitfalls avoids interpretation errors. Springer Berlin Heidelberg 2018-05-15 /pmc/articles/PMC6108962/ /pubmed/29766474 http://dx.doi.org/10.1007/s13244-018-0623-4 Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Review Stefanelli, Salvatore Mundada, Pravin Rougemont, Anne-Laure Lenoir, Vincent Scolozzi, Paolo Merlini, Laura Becker, Minerva Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title_full | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title_fullStr | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title_full_unstemmed | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title_short | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
title_sort | masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108962/ https://www.ncbi.nlm.nih.gov/pubmed/29766474 http://dx.doi.org/10.1007/s13244-018-0623-4 |
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