Goldenhar Syndrome: Craniofacial implications with emphasis on the temporomandibular joint and therapeutic approaches
DOI:
https://doi.org/10.33448/rsd-v14i12.50465Keywords:
Goldenhar Syndrome, Temporomandibular Joint, Hemifacial Microsomia.Abstract
Goldenhar Syndrome (GS) is a spectrum of malformations that primarily affects structures derived from the first and second branchial arches, resulting in alterations of the mandible, maxilla, and ears, and may be associated with ocular and vertebral anomalies. The condition is generally characterized by unilateral craniofacial involvement, with the temporomandibular joint (TMJ) being one of the most relevant manifestations, impacting orofacial functions such as mastication, swallowing, phonation, and facial aesthetics. The objective of this study was to analyze, through a narrative literature review, the craniofacial alterations associated with GS, with emphasis on the TMJ, in addition to discussing therapeutic approaches and the role of the dentist in functional and aesthetic rehabilitation. A bibliographic survey was conducted in the PubMed and LILACS databases, initially with 50 articles published between 2015 and 2025, of which 29 met the inclusion criteria and were analyzed regarding anatomical manifestations, classifications, and therapeutic possibilities. Patients with SG may present with anything from condylar hypoplasia to absence of the temporomandibular joint (TMJ), as well as alterations in the glenoid fossa and articular disc, resulting in facial asymmetry, malocclusion, and functional limitations. The Pruzansky-Kaban and OMENS+ classification systems assist in defining the severity of the deformity and in individualized therapeutic planning. Treatment options include functional orthopedics, bone grafts, distraction osteogenesis, and alloplastic prostheses, generally in a multidisciplinary approach. In conclusion, SG significantly compromises the TMJ, requiring early and continuous monitoring, with the dentist's role being fundamental in recognizing structural alterations and in appropriate therapeutic planning.
References
Ahmed, M., & Ali, S. (2019). Computer guided temporomandibular joint reconstruction of Kaban III hemifacial microsomia with anotia: A case report. International Journal of Surgery Case Reports, 57, 52–56. https://doi.org/10.1016/j.ijscr.2019.03.005
Al Ghamdi, S. A. (2022). Dental manifestations of a paediatric patient with Goldenhar syndrome: A case report. Journal of the Pakistan Medical Association, 72(11), 2305–2307. https://doi.org/10.47391/JPMA.4152
Bender, M. E., Lipin, R. B., & Goudy, S. L. (2018). Development of the pediatric temporomandibular joint. Oral and Maxillofacial Surgery Clinics of North America, 30(1), 1–9. https://doi.org/10.1016/j.coms.2017.09.002
Bogusiak, K., Puch, A., & Arkuszewski, P. (2017). Goldenhar syndrome: Current perspectives. World Journal of Pediatrics, 13(5), 405–415.https://doi.org/10.1007/s12519-017-0048-z
Cassi, D., et al. (2017). Early orthopaedic treatment of hemifacial microsomia. Case Reports in Dentistry, 2017, 7318715.https://doi.org/10.1155/2017/7318715
Chen, H., & Shen, W. (2024). Goldenhar syndrome complicated by hemifacial microsomia and unilateral cleft palate absence. Journal of Craniofacial Surgery. Advance online publication. https://doi.org/10.1097/SCS.0000000000010555
Das, A., et al. (2024). Dental management of Goldenhar syndrome in a pediatric patient. Journal of Integrative Medicine and Research, 2(1), 29–32.https://doi.org/10.4103/jimr.jimr_37_23
Fernandes, J. M. B., Vieira, L. T., & Castelhano, M. V. C. (2023). Revisão narrativa enquanto metodologia científica significativa: reflexões técnico-formativas. REDES – Revista Educacional da Sucesso, 3(1), 1–7.
Fu, Y., et al. (2024). Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: A case report and literature review. BMC Ophthalmology, 24(1), 81. https://doi.org/10.1186/s12886-024-03317-9
Galea, C. J., Dashow, J. E., & Woerner, J. E. (2018). Congenital abnormalities of the temporomandibular joint. Oral and Maxillofacial Surgery Clinics of North America, 30(1), 71–82. https://doi.org/10.1016/j.coms.2017.09.003
Iturriaga, V., Bornhardt, T., & Velasquez, N. (2023). Temporomandibular joint: Review of anatomy and clinical implications. Dental Clinics of North America, 67(2), 199–209. https://doi.org/10.1016/j.cden.2022.11.003
Kunjumon, S. P., et al. (2023). Diagnostic imageology of Goldenhar syndrome: Report of a rare case. Contemporary Clinical Dentistry, 14(4), 313–316.https://doi.org/10.4103/ccd.ccd_180_23
López, D. F., et al. (2022). Hemifacial microsomia: Treatment alternatives—A systematic review of literature. Journal of Clinical Pediatric Dentistry, 46(5), 15–30. https://doi.org/10.22514/jocpd.2022.003
Marianchik, I., & Nair, M. K. (2018). Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography—Three case reports. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 126(4), e233–e239. https://doi.org/10.1016/j.oooo.2018.04.009
Nardi, C., et al. (2018). Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome. American Journal of Orthodontics and Dentofacial Orthopedics, 153(2), 269–277. https://doi.org/10.1016/j.ajodo.2017.06.024
Olate, S., et al. (2023). An overview of clinical conditions and a systematic review of personalized TMJ replacement. Journal of Personalized Medicine, 13(3), 533. https://doi.org/10.3390/jpm13030533
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica. Editora da UFSM.
Ramly, E. P., et al. (2020). Temporomandibular joint ankylosis in pediatric patients with craniofacial differences: Causes, recurrence and clinical outcomes. Journal of Craniofacial Surgery, 31(5), 1343–1347. https://doi.org/10.1097/SCS.0000000000006328
Renkema, R. W., et al. (2022). A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned? Journal of Plastic, Reconstructive & Aesthetic Surgery, 75(6), 1781–1792.https://doi.org/10.1016/j.bjps.2022.02.058
Rother, E. T. (2007). Revisão sistemática x revisão narrativa. Acta Paulista de Enfermagem, 20(2), 5–6.
Saini, V., et al. (2024). Complex presentation of Goldenhar syndrome in a preterm neonate: A case report. Cureus, 16(7), e63624.https://doi.org/10.7759/cureus.63624
Shakir, S., & Bartlett, S. P. (2021). Modern mandibular distraction applications in hemifacial microsomia. Clinics in Plastic Surgery, 48(3), 375–389.https://doi.org/10.1016/j.cps.2021.02.001
Shibazaki-Yorozuya, R., et al. (2024). Three-dimensional hemifacial microsomia classification with new subtypes based on the Pruzansky and Kaban classification. Plastic and Reconstructive Surgery Global Open, 12(5), e5810. https://doi.org/10.1097/GOX.0000000000005810
Singhal, D., & Tripathy, K. (2025). Oculo auriculo vertebral spectrum. In StatPearls. StatPearls Publishing.
Sinn, D. P., Tandon, R., & Tiwana, P. S. (2021). Can alloplastic total temporomandibular joint reconstruction be used in the growing patient? A preliminary report. Journal of Oral and Maxillofacial Surgery, 79(11), 2267.e1–2267.e16. https://doi.org/10.1016/j.joms.2021.06.022
Thirunavukarasu, A. J., et al. (2021). Temporomandibular joint anatomy: Ultrasonographic appearances and sexual dimorphism. Clinical Anatomy, 34(7), 1043–1049. https://doi.org/10.1002/ca.23719
Valls-Ontañón, A., et al. (2024). An updated protocol for mandibular reconstruction in nongrowing patients with craniofacial microsomia with temporomandibular joint total prosthesis. Journal of Craniomaxillofacial Surgery, 52(9), 1019–1023. https://doi.org/10.1016/j.jcms.2024.06.011
Viciano, J., & D’Anastasio, R. (2018). Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant’Anna archaeological site. Archives of Oral Biology, 91, 23–34. https://doi.org/10.1016/j.archoralbio.2018.04.004
Wolford, L. M., & Perez, D. E. (2015). Surgical management of congenital deformities with temporomandibular joint malformation. Oral and Maxillofacial Surgery Clinics of North America, 27(1), 137–154. https://doi.org/10.1016/j.coms.2014.09.010
Xue, X., Liu, Z., Wei, H., & Wang, X. (2023). A proposal for the classification of temporomandibular joint disc deformity in hemifacial microsomia. Bioengineering, 10(5), 595. https://doi.org/10.3390/bioengineering10050595
Yang, I. H., et al. (2020). Distribution and phenotypes of hemifacial microsomia and its association with other anomalies. Korean Journal of Orthodontics, 50(1), 33–41. https://doi.org/10.4041/kjod.2020.50.1.33
Ye, C., et al. (2023). Craniofacial morphology of temporomandibular disorder patients with different disc positions: Stratifying features based on sex and sagittal skeletal pattern. Journal of Clinical Medicine, 12(2), 652. https://doi.org/10.3390/jcm12020652
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Copyright (c) 2025 Evylen Vitória de Jesus Campos, Maria Lucilene de Andrade Rocha, Maria Karollina Gonçalves, Rayane Rodrigues Ferreira, Nicolle Gonçalves Franco

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