Resumen
Objetivo: Presentar, por medio de un informe de caso clínico, las principales manifestaciones orales asociadas al Síndrome de Treacher Collins, ampliando el conocimiento clínico y diagnóstico sobre esta condición. Detalles del caso: Paciente de sexo masculino, de ocho años, con diagnóstico de Síndrome de Treacher Collins, fue evaluado en el Servicio de Odontología del Hospital Universitario de la Universidad Federal de Sergipe. El examen extraoral reveló las alteraciones típicas del síndrome, incluyendo asimetría facial, micrognatia severa, convexidad facial acentuada, hipoplasia cigomática, microtia bilateral, inclinación antimongoloide de las hendiduras palpebrales y uso de traqueostomía. En el examen intraoral, se observaron múltiples condiciones bucales, como gran cantidad de placa y cálculo, gingivitis crónica generalizada, múltiples lesiones cariosas activas, apiñamiento dental, mordida abierta anterior, restos radiculares y fisura palatina. Consideraciones finales: Este caso clínico pone de manifiesto la complejidad de las manifestaciones craneofaciales y orales asociadas al síndrome de Treacher Collins, especialmente cuando coexisten micrognatia severa, paladar hendido, traqueostomía, alta actividad cariogénica y enfermedad periodontal. Comprender estas alteraciones es fundamental para una planificación odontológica individualizada, preventiva e interdisciplinaria, que contribuya a mejorar la salud bucal, la funcionalidad y la calidad de vida del paciente.
Referencias
ANDRADE EC, et al. Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características, Revista Brasileira de Otorrinolaringologia, 2005; 71
ÅSTEN P, et al. Orofacial functions and oral health associated with Treacher Collins syndrome, Acta Odontologica Scandinavica, 2013; 71(3-4)
BRUNEEL L, BETTENS K, LIERDE KV. The relationship between health-related quality of life and speech in patients with cleft palate, International Journal of Pediatric Otorhinolaryngology, 2019; 120
BOKU A, et al. Airway Management for Treacher Collins Syndrome with Limited Mouth Opening, Open Journal of Anesthesiology, 2013; 3(2)
CABANILLAS-AQUINO AG, et al. Assessment of craniofacial and dental characteristics in individuals with Treacher Collins syndrome: a review, Journal of Stomatology, Oral and Maxillofacial Surgery, 2021; 122(5)
CAETANO IS, et al. Síndrome de Treacher Collins: uma abordagem diagnóstica, evolução clínica e revisão, Revista Brasileira de Revisão de Saúde, 2023; 5
CHEDID N, ABOU JEILY P. Syndrome de Treacher-Collins: prise en charge bucco-dentaire d'un cas pédiatrique, International Arab Journal of Dentistry, 2018; 9(1)
CUNHA JAM, et al. Treacher Collins syndrome and speech-language disorders: a narrative review, Research, Society and Development, 2021; 10(3).
DALBEN GS, et al. Oral health status of children with Treacher Collins syndrome, Special Care in Dentistry, 2006; 26(2).
DUQUE CL. Síndrome de Treacher Collins e implicações na cavidade oral. Dissertação (Mestrado em Medicina Dentária) – Universidade Fernando Pessoa, Porto, 2019.
GEIRDAL AO, et al. Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia: a comparative study, Quality of Life Research, 2015; 24(4)
HYLTON JB, et al. Multidisciplinary treatment approach in Treacher Collins syndrome, Journal of Dentistry for Children, 2012; 79(1).
IBARRA AF, et al. Treacher Collins syndrome: an update from a stomatological point of view, International Journal of Applied Dental Sciences, 2021; 7(4)
KASAT VO, BALDAWA R. Treacher Collins syndrome: a case report and review of literature, Journal of Clinical and Experimental Dentistry, 2011; 3(1)
MA X, et al. Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome, Plastic and Reconstructive Surgery, 2015; 135(2).
MARTELLI-JÚNIOR H, et al. Orofacial features of Treacher Collins syndrome, Medicina Oral, Patología Oral y Cirugía Bucal, 2009; 14(7).
MARSZAŁEK-KRUK BA, et al. Treacher Collins syndrome: genetics, clinical features and management, Genes, 2021; 12(9)
MOHAN S, et al. Anesthetic management of Treacher Collins syndrome in an outpatient surgical center, American Journal of Case Reports, 2021; 22.
MOREIRA AAP, et al. Aspectos gerais da Síndrome de Treacher Collins e seus impactos na qualidade de vida: revisão de literatura, Archives of Health Investigation, 2021; 10(9)
NASSAR JY, et al. Treacher Collins syndrome: a comprehensive review on clinical features, diagnosis, and management, Journal of Family Medicine and Primary Care, 2024; 13(10)
PARADOWSKA-STOLARZ A, et al. Obstructive sleep apnoea in patients with Treacher Collins syndrome: a narrative review, Journal of Clinical Medicine, 2025; 14(13)
SAOUD A, et al. Treacher Collins syndrome: a case report, International Journal of Case Reports and Images, 2020; 11.
SMITH F, et al. Long-term treatment outcomes from a patient's perspective with Treacher Collins syndrome, BMJ Case Reports, 2021; 14(5): e241090
SPEZZIA S. Oral repercussions of Treacher Collins syndrome: literature review, Journal of Oral Investigations, 2018; 7(2).
TRAINOR PA, et al. Treacher Collins syndrome: etiology, pathogenesis and prevention, European Journal of Human Genetics, 2009; 17(3).
ZANCHETTA LMR, et al. Dental anomalies in individuals with Treacher Collins syndrome, JSM Head and Face Medicine, 2018; 3(2).
ZORNOSA X. Oral health impacts of Treacher Collins syndrome, Decisions in Dentistry, 2022; 8(5).
