Publicação
Pierre Robin syndrome : diagnosis and orofacial manifestations
| Resumo: | This narrative review provides an overview of the current understanding of Pierre Robin Syndrome (PRS) as a genetic disease. The gene SRY-box 9 (SOX9) is identified as the most common genetic factor associated with PRS, syndromic or not. Additionally, it discusses modern strategies for prenatal ultrasound diagnosis, emphasizing its significance in the early detection of micro anomalies related to possible genetic syndromes. The interaction between oral conditions and dental phenotypes of PRS is also evaluated, underscoring the importance of oral health. Finally, the critical role of the dentist in the comprehensive care of individuals with PRS is addressed, highlighting their involvement in multidisciplinary approaches and continuous management of oral and dental health to improve patients' quality of life. |
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| Autores principais: | Douss, Mohamed Ali |
| Assunto: | Micrognathia Glossoptosis Cleft palate Airway obstruction |
| Ano: | 2024 |
| País: | Portugal |
| Tipo de documento: | dissertação de mestrado |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Egas Moniz - Cooperativa de Ensino Superior, CRL |
| Idioma: | inglês |
| Origem: | Egas Moniz - Cooperativa de Ensino Superior, CRL |
| Resumo: | This narrative review provides an overview of the current understanding of Pierre Robin Syndrome (PRS) as a genetic disease. The gene SRY-box 9 (SOX9) is identified as the most common genetic factor associated with PRS, syndromic or not. Additionally, it discusses modern strategies for prenatal ultrasound diagnosis, emphasizing its significance in the early detection of micro anomalies related to possible genetic syndromes. The interaction between oral conditions and dental phenotypes of PRS is also evaluated, underscoring the importance of oral health. Finally, the critical role of the dentist in the comprehensive care of individuals with PRS is addressed, highlighting their involvement in multidisciplinary approaches and continuous management of oral and dental health to improve patients' quality of life. |
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