Tracheal Cartilaginous Sleeve Diagnosed on Ultrasound in a Child with Pfeiffer Syndrome

The tracheal cartilaginous sleeve (TCS) is a rare, difficult to diagnose airway malformation in which segmented tracheal rings are replaced by a solid sheath of cartilage. TCS is a significant cause of morbidity and mortality in patients with syndromic craniosynostosis, and early diagnosis is essential. We report a case in which ultrasound (US) was used to diagnose TCS in a patient with Pfeiffer syndrome. This is the first case demonstrating the use of US as the initial tool to diagnose TCS. The case supports ongoing research investigating the use of US as a screening and diagnostic imaging modality for TCS.