Characterization of Phenotypes and Treatment Modalities in Patients With Treacher-Collins Syndrome

The purpose of this study was to investigate the phenotypes and treatment modalities (Tx-Mod) in patients with Treacher-Collins syndrome (TCS) using a TCS severity index (TSI). The sample consisted of 14 Korean TCS patients treated at the Department of Orthodontics, Seoul National University Dental Hospital during 1998 to 2019. The TSI was calculated by adding the scores from the number of deformity-involved midface structures (eye, ear, zygoma) and the degree of mandibular hypoplasia (Pruzansky-Kaban type, gonial angle, Sella-Nasion-B point angle). The deformity-involved midface structure, degree of mandibular hypoplasia, oral manifestations, dental phenotypes, and Tx-Mod types were investigated using descriptive statistics. The TSI classified the subjects into 2 mild, 6 moderate, and 6 severe cases. The severity of ear and zygoma deformities, degree of condylar hypoplasia (Pruzansky-Kaban type), clockwise-rotated morphology (gonial angle) and retrusive position (Sella-Nasion-B point angle) of the mandible, and frequency of oral/craniofacial cleft, openbite, congenitally missing tooth and impacted tooth showed a tendency of increase from mild to severe TCS cases. After growth observation (78.6%), diverse combinations of Tx-Mods were applied except for functional appliance therapy. Surgical procedures for eye, ear, and zygoma reconstruction were performed on all patients (100%), whereas fixed orthodontic treatment, mandibular distraction osteogenesis, and orthognathic surgery were performed on 50% of patients. Surgical procedure for hearing improvement was the most frequent Tx-Mod (78.6%). The main desires of TCS patients were to obtain the facial esthetics in the midface and to improve hearing function. The TSI might provide a primary data for individualized diagnosis and treatment planning.