Clinical review details genetic mechanisms and surgical interventions in Treacher Collins syndrome, highlighting the necessity of coordinated multidisciplinary care.
Key Points
To review the genetic etiology, clinical and craniofacial manifestations, and comprehensive multidisciplinary care strategies for Treacher Collins syndrome.
Synthesized molecular mechanisms involving mutations in TCOF1, POLR1C, POLR1D, and POLR1B that trigger neural crest cell apoptosis.
Evaluated clinical consequences, upper airway obstruction risks, dental anomalies, and staged surgical and dental interventions.
Genetic disruptions lead to bilateral branchial arch malformations, featuring malar and mandibular hypoplasia, microtia, and critical upper airway narrowing that severely challenges anesthetic management.
Oral manifestations frequently include tooth agenesis, severe malocclusions, and heightened dental caries risk.
Early, coordinated multidisciplinary intervention—combining immediate airway management, mandibular distraction osteogenesis, staged reconstructive surgery, and proactive dental care—restores function and aesthetics.