Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome

Aim: This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term. Method: A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all ≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions. Desire for further treatment of these items was questioned. For each patient an overview was made of all facial operations performed, the affected facial features and the objective severity of the facial deformities. Results: Patients were least satisfied with the appearance of the ears, facial profile and eyelids and with the functions hearing and nasal patency (P < 0.001). Residual deformity of the reconstructed facial areas remained a problem in mainly the orbital area. The desire for further treatment and dissatisfaction was high in the operated patients, predominantly for eyelid reconstructions. Another significant wish was for improvement of hearing. Conclusion: In patients with TCS, functional deficits of the face are shown to be as important as the facial appearance. Particularly nasal patency and hearing are frequently impaired and require routine screening and treatment from intake onwards. Furthermore, correction of ear deformities and midface hypoplasia should be offered and performed more frequently. Residual deformity and dissatisfaction remains a problem, especially in reconstructed eyelids. Level of evidence: II.

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