Long-term CPAP treatment for OSA in pycnodysostosis: A 15-year longitudinal follow-up of a patient.

Authors

Abir Bouhamdi, Yassin Chefchaou, Meryem Benjelloun, Sanae Labyad, Abdellah Abida, Zouhayr Souirti, Sana Abourazzak, Siham Tizniti, Mounia Serraj, Bouchra Amara, Mohamed Chakib Benjelloun, Mohammed Elbiaze

Published in

Respiratory medicine case reports. Volume 62. Pages 102442. Epub Jun 02, 2026.

Abstract

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.

PMID:
42317787
Bibliographic data and abstract were imported from PubMed on 19 Jun 2026.

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