: Pycnodysostosis is a rare genetic disorder associated with craniofacial anomalies that promote the occurrence of obstructive sleep apnea (OSA). We report the 15-year longitudinal follow-up of a patient with severe OSA treated with continuous positive airway pressure (CPAP). From the age of 2 years, the patient presented severe OSA confirmed by polysomnography and CPAP was initiated. Throughout follow-up, adherence was excellent (≥ 90%). Despite multidisciplinary follow-up and the addition of a dental prosthesis aimed at targeted expansion of the oral cavity, persistent maxillo-mandibular retrognathia was still present at age 17 years along with OSA persistence. This case highlights the importance of early and periodic follow-up and evaluation of alternative therapeutic approaches to improve upper airway patency in children with craniofacial syndromes such as pycnodysostosis.
Bouhamdi et al. (Mon,) studied this question.