Ear anomalies in Apert and crouzon syndromes - The description and classification of radiology evaluation

• Autor(a) principal: Guimarães, Marcos Loyola Borém
• Data de Publicação: 2022
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Biblioteca Digital de Teses e Dissertações da USP
• Texto Completo: https://www.teses.usp.br/teses/disponiveis/61/61132/tde-21072022-151038/
• topic: Apert syndrome; Computed tomography; Craniossinostose; Craniosynostosis; Crouzon syndrome; Ear/abnormalities; Orelha/anormalidades; Sindrome de Apert; Sindrome de Crouzon; Tomografia computadorizada

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.