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Síndrome de Treacher Collins: Manifestaciones craneofaciales y dentales [Treacher Collins syndrome: Craniofacial and dental manifestations]
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Objetivo: sintetizar evidencia reciente sobre características clínicas, diagnóstico y manejo odontológico en síndrome de Treacher Collins. Método: revisión sistemática siguiendo directrices PRISMA. Se analizaron 15 artículos publicados entre 2020-2025 de PubMed y revistas especializadas, utilizando términos MeSH: "Treacher Collins Syndrome", "craniofacial anomalies", "dental abnormalities", "malocclusion" y "mandibular hypoplasia". Resultados: El síndrome de Treacher Collins presenta incidencia 1:50,000 nacimientos con expresión fenotípica heterogénea. Manifestaciones principales incluyen hipoplasia malar y mandibular, colobomas palpebrales, malformaciones auriculares (microtia/anotia), hipoacusia conductiva, maloclusiones, alteraciones en erupción dental y disfunción temporomandibular. Variantes patogénicas en gen TCOF1 son más frecuentes. Estudio multicéntrico de 248 pacientes identificó alta incidencia de anomalías extracraneofaciales (cardíacas, urogenitales). Las deformidades faciales generan repercusiones psicosociales significativas: baja autoestima, inseguridad y dificultades de integración social.
Instituto de Investigación Multidisciplinaria Perspectivas Globales
Title: Síndrome de Treacher Collins: Manifestaciones craneofaciales y dentales [Treacher Collins syndrome: Craniofacial and dental manifestations]
Description:
Objetivo: sintetizar evidencia reciente sobre características clínicas, diagnóstico y manejo odontológico en síndrome de Treacher Collins.
Método: revisión sistemática siguiendo directrices PRISMA.
Se analizaron 15 artículos publicados entre 2020-2025 de PubMed y revistas especializadas, utilizando términos MeSH: "Treacher Collins Syndrome", "craniofacial anomalies", "dental abnormalities", "malocclusion" y "mandibular hypoplasia".
Resultados: El síndrome de Treacher Collins presenta incidencia 1:50,000 nacimientos con expresión fenotípica heterogénea.
Manifestaciones principales incluyen hipoplasia malar y mandibular, colobomas palpebrales, malformaciones auriculares (microtia/anotia), hipoacusia conductiva, maloclusiones, alteraciones en erupción dental y disfunción temporomandibular.
Variantes patogénicas en gen TCOF1 son más frecuentes.
Estudio multicéntrico de 248 pacientes identificó alta incidencia de anomalías extracraneofaciales (cardíacas, urogenitales).
Las deformidades faciales generan repercusiones psicosociales significativas: baja autoestima, inseguridad y dificultades de integración social.
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