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Master's Dissertation
Full name
Marcos Loyola Borém Guimarães
Knowledge Area
Date of Defense
Bauru, 2022
Tonello, Cristiano (President)
Oliveira, Eduardo Boaventura
Reis, Claudiojanes dos
Trindade, Sergio Henrique Kiemle
Title in English
Ear anomalies in Apert and crouzon syndromes - The description and classification of radiology evaluation
Keywords in English
Apert syndrome
Computed tomography
Crouzon syndrome
Abstract in English
Introduction: Craniosynostosis (CS) is a premature fusion of cranial sutures associated with rare syndromes. Those syndromes have at least 180 genes identified, and the most common syndromes are associated with FGF. Although there are some abnormalities of external, middle and inner ear in those syndromes, there is a shortage in the literature about the main anomalies in the temporal bone on imaging examinations and their prevalence in patients with Apert syndrome (AS) and Crouzon syndrome (CS). Objectives: describe the main alterations in the temporal bone on Computed Tomography (CT) scans, classify them and their prevalence in the AS and CS. Methods: evaluation of the structures of the temporal bone using Computed Tomography (CT) scans. Anomalies involving the external, middle and inner ear, large vessels, facial nerve, as well as other significant temporal bone anomalies were evaluated and classified by means of specific classifications and descriptive findings associated with each segment. Results: Anomalies in the external ear were found 64,3% of AS ears and 81,9% CS ears, the middle ear anomalies were found 92% of AS ears and 81% of CS ears, the inner ear anomalies were found 69,6% of AS ears and 9% of CS ears, the facial nerve was abnormal 48,3% of AS ears and 47,8% of CS ears, the jugular was abnormal 37,5% of AS ears and 54,6 of CS ears the carotid artery was abnormal 14,3% of AS ears and 20,5% of CS ears. Conclusion: Management of those patients needs to embrace an evaluation of the TB with imaging exams because of the high prevalence of anomalies in this segment. The prevalence of these findings can be considered phenotypic of the syndromes, and can compose protocols for their description. Furthermore, one can measure how challenging it can be to approach the TB of those patients.
Title in Portuguese
Anomalias do ouvido nas síndromes de Apert e Crouzon - A descrição e classificação da avaliação radiológica
Keywords in Portuguese
Sindrome de Apert
Sindrome de Crouzon
Tomografia computadorizada
Abstract in Portuguese
Introdução: Craniosinostose é uma fusão prematura das suturas cranianas e pode estar associada a síndromes raras. Essas síndromes tem pelo menos 150 genes identificados e comumente estão relacionadas ao gene FGF. Apesar de haver algumas anormalidades de orelha externa, media e interna nestas síndromes, há uma escassez na literatura a respeito das principais anormalidades do osso temporal nos exames de imagem e a sua prevalência nas síndromes de apert (SA) e Sindrome de crouzon (SC) Objetivos: Descrever as principais alterações do osso temporal nos exames de tomografia computadorizada, classifica-las e aferir sua prevalência nas síndromes de apert e crouzon Métodos: Avaliar as estruturas do osso temporal usando imagens de tomografia computadorizada (TC). Alteracões envolvendo a orelha externa, media e interna, os grandes vasos (jugular e carótida) e nervo facial, assim como outras alterações significativas do osso temporal foram avaliadas e classificadas em cada segmento. Resultados: Anormalidades da orelha externa foram encontradas em 64,3% nas orelhas da AS e 81,9% nas orelhas da SC, anormalidades da orelha média foram encontradas em 92% na SA e 81% nas orelhas da SC, anormalidades da orelha interna foram encontradas em 69,6% nas orelhas da SA e 9% nas orelhas da SC, o nervo facial estava anormal em 48,3% nas orelhas da SA e 47,8% das orelhas na SC, a veia jugular estava anormal em 37,5% nas orelhas da SA e 54,6% das orelhas da SC, a artéria carótida estava anormal em 14,3% das orelhas da SA e 20,5% das orelhas na SC. Conclusão: O manejo destes sindromes necessita abranger a avaliação do osso temporal em particular com exames de imagem devido a alta prevalência de anormalidades neste segmento. A prevalência destas alterações faz com que possamos considerar fenotípico destas síndromes e pode compor protocolos de descrição delas. Ainda podemos avaliar o quão desafiador pode ser abordar o osso temporal destes pacientes.
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