Vertically Fused Tracheal Cartilage: An Underrecognized Anomaly

Tracheal Cartilaginous Sleeve Association With Syndromic Midface Hypoplasia

“…In the medical literature, all reported cases of TCS have been associated with midface hypoplasia secondary to a craniosynostosis syndrome. [1][2][3][4][5][6][7][8][9][10][11][12][13] Our 2 cases were consistent with this trend.…”

“…The rigidity of the trachea in patients with TCS is believed to alter the mechanical properties of the airway and airflow dynamics, reducing the efficacy of natural airway protective mechanisms and airway clearing. 4 Davis et al 5 proposed that the TCS lacks the distensibility of the normal trachea, which ordinarily includes the interring fibrous tissue between cartilaginous rings as well as a pars membranacea. Scheid et al 6 also propose that the lack of a pars membranacea may detract from the necessary elasticity needed to provide distention.…”

Tracheal Ultrasound for Diagnosis of Tracheal Cartilaginous Sleeve in Patients with Syndromic Craniosynostosis

“…The presence of TCS in patients with SC contributes to airway obstruction and can predispose to higher morbidity, mortality, and need for invasive surgical management, but can be a difficult anatomic feature to diagnose 7,10,14 . Ultrasound has steadily grown in popularity across multiple medical disciplines and is now used routinely for both formal and point‐of‐care diagnosis of airway pathology 17,18 .…”

“…The presence of TCS in patients with SC contributes to airway obstruction and can predispose to higher morbidity, mortality, and need for invasive surgical management, but can be a difficult anatomic feature to diagnose. 7,10,14 Ultrasound has steadily grown in popularity across multiple medical disciplines and is now used routinely for both formal and point-of-care diagnosis of airway pathology. 17,18 Ultrasound was first used to identify TCS in 2018 by Wanner et al, and described in one other isolated case report in an SC patient by Loy et al 15,16 This study builds upon those initial descriptions and demonstrates that US is an effective, noninvasive modality that can be used to screen for TCS.…”

Genotype–Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice

“…extremely difficult. 2,3 Noorily et al observed TCS in humans that frequently did not involve the entire trachea. 26 Likewise, we describe a large number of tracheas with sleeved segments that do not extend the entire tracheal length.…”