Análise do perfil facial e da má oclusão de crianças e adolescentes com doenças genéticas raras que afetam o desenvolvimento esquelético

• Ano de defesa: 2023
• Autor(a) principal: Katherine Silvana Loayza Abarca
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Minas Gerais; Brasil; FAO - DEPARTAMENTO DE ODONTOLOGIA SOCIAL E PREVENTIVA; Programa de Pós-Graduação em Odontologia; UFMG
• Palavras-chave em Português: Doenças raras; Odontologia para pessoas com deficiência; Má oclusão; Analise facial subjetiva; Mucopolissacaridoses; Osteogênese imperfeita; Assistência odontológica para pessoas com deficiências
• Link de acesso: http://hdl.handle.net/1843/61426

Rare diseases are defined as those that affect up to 65 people per 100,000 people. In Brazil, it is estimated that there are between 13 and 15 million people with rare diseases. In this group of diseases are those of genetic etiology that affect skeletal development; such as Mucopolysaccharidoses (MPS) and Osteogenesis Imperfecta (OI). They are two diseases associated with several orofacial alterations. The aim of this study was to compare the prevalence of malocclusion and the facial profile of children and adolescents with rare genetic diseases that affect skeletal development with normotypical children and adolescents. A cross-sectional observational study was carried out with 152 children and adolescents, 76 with rare genetic diseases ([MPS (n=19) / OI (n=57)], and 76 without rare genetic diseases; aged between two and 19 years and parents/guardians. The groups were matched by age and gender. Children/adolescents with rare diseases were recruited from outpatient clinics of specialized or reference services in rare genetic diseases, in five Brazilian states (Ceará, Espírito Santo, Minas Gerais, Rio de Janeiro and São Paulo). The group without a rare disease was recruited from other clinics in the same hospitals. A clinical examination of the malocclusion of the children/adolescents and an analysis of the facial profile were performed (facial symmetry, facial proportion, anteroinferior facial height, facial profile, facial convexity, nasolabial angle, lip sealing, chin-neck line). Parents/guardians answered a questionnaire about individual, sociodemographic, behavioral questions and the child's medical and dental history. The Directed Acyclic Graph (DAG) was used to identify possible confounding variables. The study was approved by the Research Ethics Committee (CEP) of the Federal University of Minas Gerais (CAAE 01480212.4.0000.5149 [MPS] / CAAE 54755516.4.0000.5149 [OI]). Univariate analysis of the frequency of facial alterations and malocclusion was performed in both groups. The average age of children/adolescents was 8.9 years (± 4.6). There were no confusion variables for the association between rare diseases and occlusal issues. When compared to the group without a rare disease, it was found that the sample of participants with rare diseases was identified with a higher prevalence of malocclusion (dental crowding, rotation, overjet/overbite changes, crossbite and/or open bite). The group with rare diseases was also diagnosed with a higher percentage of facial alterations (dolichofacial, convex/concave profile, inadequate facial proportion/height, open/closed nasolabial angle, absence of lip seal, tongue interposition and inadequate chin-neck line) when compared to the normotypic group. It could be concluded that children and adolescents with rare genetic diseases that affect skeletal development had a higher prevalence of malocclusion and facial alterations, when compared to children/adolescents without rare diseases.