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Predisposition to obstructive sleep apnea in individuals with Treacher Collins Syndrome


Treacher Collins Syndrome (TCS), a congenital craniofacial anomaly of considerable rarity (1/50,000 live births) is characterized by mandibular hypoplasia and retrognathia, auricular and zygomatic arch hypoplasia, in addition to cleft lip and palate, in a considerable part of the cases. These characteristics negatively impact craniofacial development, leading to a significant reduction in nasopharyngeal volumes, predisposing these individuals to obstructive sleep apnea (OSA). Early detection of OSA symptoms through clinical assessment and validated questionnaires are important guiding tools.


To prospectively evaluate the occurrence of OSA symptoms in adult individuals with TCS, treated at the Laboratory of Physiology of HRAC-USP


All adult individuals with TCS (≥ 16 years old), who attended the HRAC-USP, during a period of 12 months, were invited to participate in the research, resulting in a considerable numebr of 20 participants (23±6 years), despite the rarity of the syndrome. The following parameters were assessed: 1) risk for OSA (Berlin Questionnaire), 2) excessive daytime sleepiness (Epworth Sleepiness Scale), 3) occurrence of respiratory complaints (Respiratory symptoms Questionnaire - Lab. of Physiology HRAC-USP), 4) anthropometric data: body mass index (BMI), systemic blood pressure (BP), cervical circumference (CC) and abdominal circumference (AC), and, 5) quality of life (Medical Outcomes Study 36 – Item Short – Form Health Survey - SF -36).


It was observed that 35% of the patients were at high risk for OSA and 20% had excessive daytime sleepiness. These were considered high values for the age group studied. The main respiratory complaints were: snoring (75% of cases), nasal obstruction (70%) and mouth breathing (80%). The mean values of systolic BP corresponded to 113±13 mmHg and diastolic BP corresponded to 68±10 mmHg. The mean value of BMI corresponded to 23±6 (underweight 15%, eutrophic 70%, obesity 15%, WC= 34±4cm (20% with WC above normal values), CA= 80±14cm (30% with AC above normal values). Despite the expressive sleepness symptoms and high risk for OSA detected, a good quality of life was found.


A considerable number of individuals with TCS had physical characteristics that predispose them to OSA, with associated symptoms, probably due to the presence of the craniofacial conditions imposed by the anomaly, which justify the frequent respiratory complaints in this population.


Mandibulofacial Dysostosis, Sleep Apnea, Quality of Life.


Área Clínica


Hospital de Reabilitação de Anomalias Craniofaciais - HRAC-USP - São Paulo - Brasil


Leide Vilma Fidelis da Silva, Sergio Henrique Kiemle Trindade, Cristiano Tonello, Ivy Kiemle Trindade-Suedam