Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

Abstract

This study aimed to evaluate the incidence of tracheal cartilaginous sleeve (TCS) among syndromic craniosynostosis patients, as well as describe their genetic profiles, associated co-morbidities, and operative outcomes.We performed a retrospective analysis of syndromic craniosynostosis patients (Apert, Crouzon, and Pfeiffer) at a single tertiary academic center between January 1, 2002, and February 1, 2024.39 patients with syndromic craniosynostosis were identified, with 17 patients (17/39, 43.6%) undergoing airway evaluation. 1 patient (1/17, 5.9%) was diagnosed with TCS, but 5 patients (5/17, 29.4%) had other airway abnormalities, all reflecting abnormalities of the airway wall or some type of airway stenosis. 28 patients (28/39, 73.7%) presented with a diagnosis of OSA, and 7 patients (7/39, 17.9%) of patients presented with choanal anomaly (atresia or stenosis). 32 patients (32/39, 82.1%) had genetic sequencing information available, with the most common mutations affecting p.P253R within the FGFR2 gene in 7 patients. No patients in our cohort presented with a p.W290 mutation and 7 patients presented with a p.C342 mutation, of which 4 patients had the p.C342Y mutation.The true prevalence of TCS may be likely lower than prior reports, which may aid with alleviating some familial anxiety and provide additional context and data for medical counseling and decision-making. Nonetheless, all patients should be strongly recommended to undergo airway evaluation given the risks associated with TCS, the high prevalence of structural airway anomalies, and the overall low risk of airway evaluation.

View details for DOI 10.1016/j.ijporl.2026.112745

View details for PubMedID 41637834