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Manifestações orais associadas à síndrome Prader-Willi
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Abstract(s)
A Síndrome de Prader-Willi (SPW), (OMIM #176270), é uma doença genética esporádica, resultante de uma anomalia cromossómica de microdeleção/dissomia ou por defeito de imprinting, com uma prevalência entre 1/10.000 e 1/30.000. As características da SPW são variáveis, observáveis em diferentes períodos e, para além da hipotonia grave, caracterizam-se por dificuldades alimentares no início da infância (0-2 anos), seguidos de ingestão excessiva de alimentos, obesidade mórbida e atraso mental (geralmente moderado) no final da infância. Outras alterações são a baixa estatura e a ausência de desenvolvimento pubertário. A face é caracterizada por um diâmetro bifrontal estreito, olhos amendoados (muitas vezes em posição levemente inclinada para cima), estrabismo, bochechas cheias e atividade mímica diminuída devido à hipotonia muscular. Os pacientes com SPW podem apresentar possíveis alterações orais, exibindo frequentemente más oclusões dentárias, como mordida aberta, sobre mordida ou mordida cruzada. A micrognatia, que se caracteriza por uma mandíbula inferior subdesenvolvida, é uma característica facial comum em pessoas com SPW e pode contribuir para problemas de oclusão. A xerostomia, também é comum em pessoas com SPW.
O objetivo deste estudo foi verificar na literatura científica mais recente publicada no âmbito da SPW, quais as manifestações orais mais predominantes (peri e pós-natal), assim como investigar quais as melhores práticas de tratamento e seguimento destes doentes. Enfatizamos a necessidade não só do diagnóstico precoce da condição, mas também da necessidade de intervenção rápida nos diferentes domínios incluindo a Medicina Oral, o que pressupõe a existência e a colaboração de uma equipa multidisciplinar, incluindo dentistas, pediatras, geneticistas, entre outras especialidades médicas.
Prader-Willi Syndrome (PWS) (OMIM #176270) is a sporadic genetic disease resulting from a chromosomal anomaly of microdeletion/disomy or an imprinting defect, with a prevalence between 1/10,000 and 1/30,000. The characteristics of PWS are variable and observable at different periods. In addition to severe hypotonia, they are characterized by eating difficulties in early childhood (0-2 years), followed by excessive food intake, morbid obesity, and mental retardation (generally moderate) in late childhood. Other changes are short stature and lack of pubertal development. A narrow bifrontal diameter, almond-shaped eyes (often slightly tilted), strabismus, full cheeks, and decreased mimicry activity due to muscular hypotonia characterize the face. Patients with PWS may present possible oral changes, frequently exhibiting dental malocclusions, such as open bite, overbite, or crossbite. Micrognathia, characterized by an underdeveloped lower jaw, is a common facial feature in people with PWS and can contribute to occlusion problems. Xerostomia, or dry mouth, is common in people with PWS. The objective of this study was to verify in the most recent scientific literature published within the scope of PWS which are the most predominant oral manifestations (peri and post-natal), as well as to investigate the best practices for treating and following these patients. We emphasize the need not only for early diagnosis of the condition but also for rapid intervention in different areas, including Oral Medicine, which presupposes the existence and collaboration of a multidisciplinary team, including dentists, pediatricians, and geneticists, among other specialties.
Prader-Willi Syndrome (PWS) (OMIM #176270) is a sporadic genetic disease resulting from a chromosomal anomaly of microdeletion/disomy or an imprinting defect, with a prevalence between 1/10,000 and 1/30,000. The characteristics of PWS are variable and observable at different periods. In addition to severe hypotonia, they are characterized by eating difficulties in early childhood (0-2 years), followed by excessive food intake, morbid obesity, and mental retardation (generally moderate) in late childhood. Other changes are short stature and lack of pubertal development. A narrow bifrontal diameter, almond-shaped eyes (often slightly tilted), strabismus, full cheeks, and decreased mimicry activity due to muscular hypotonia characterize the face. Patients with PWS may present possible oral changes, frequently exhibiting dental malocclusions, such as open bite, overbite, or crossbite. Micrognathia, characterized by an underdeveloped lower jaw, is a common facial feature in people with PWS and can contribute to occlusion problems. Xerostomia, or dry mouth, is common in people with PWS. The objective of this study was to verify in the most recent scientific literature published within the scope of PWS which are the most predominant oral manifestations (peri and post-natal), as well as to investigate the best practices for treating and following these patients. We emphasize the need not only for early diagnosis of the condition but also for rapid intervention in different areas, including Oral Medicine, which presupposes the existence and collaboration of a multidisciplinary team, including dentists, pediatricians, and geneticists, among other specialties.
Description
Dissertação para obtenção do grau de Mestre no Instituto Universitário Egas Moniz
Keywords
Síndrome de Prader Willi Obesidade Manifestações orais Má oclusão