Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by craniofacial deformities, resulting from mutations in the TCOF1, POLR1C, or POLR1D genes. These deformities often involve the zygomatic complex, mandible, palate, and external ears, significantly impacting aesthetics and function. This review elucidates the complex pathophysiology, clinical manifestations, and comprehensive surgical management of TCS within the realm of plastic surgery. We emphasize the importance of a multidisciplinary approach, involving otolaryngologists, maxillofacial surgeons, and speech therapists, to optimize functional and cosmetic outcomes. Through detailed analysis of current surgical techniques, including distraction osteogenesis, orthognathic surgery, and ear reconstruction, this article aims to provide a framework for individualized patient care, focusing on improving quality of life and psychosocial integration for patients with Treacher Collins syndrome.
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Gloria et al. (2024) studied this question.
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