Anomalies of the Tracheal Cartilage

Shimada, Hiroyuki; Misugi, K

doi:10.1111/j.1440-1827.1979.tb00963.x

Cited by 4 publications

(1 citation statement)

References 17 publications

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“…Most children with TCS also have syndromic craniosynostosis, although TCS has been reported in a patient with suspected Goldenhar syndrome and a child with Opitz G syndrome. 3,6–31 Lertsburapa and colleagues performed a meta-analysis of all previously reported cases of TCS and reported a 90% risk of death by age 2 years without a tracheostomy. 8 Of note, no patients in that study had undergone surgical airway reconstruction, which may be an effective surgical alternative to tracheostomy.…”

Section: Introductionmentioning

confidence: 99%

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Wenger

Dahl

Bhoj

et al. 2017

Genetics in Medicine

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Purpose Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis. Methods Chart review of patients with syndromic craniosynostosis across two institutions. Results In a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS was found in 19, for an overall prevalence of 22%. FGFR2, TWIST1, and FGFR3 mutations were identified in children with TCS. All five children with a W290C mutation in FGFR2 had TCS, and most previously reported children with W290C had identification of TCS or early death. In contrast, TCS was not associated with other mutations at residue 290. Conclusion There is an association between TCS and syndromic craniosynostosis, and it appears to be particularly high in individuals with the W290C mutation in FGFR2. Referral to a pediatric otolaryngologist and consideration of operative airway evaluation (i.e., bronchoscopy or rigid endoscopy) in all patients with syndromic craniosynostosis should be considered to evaluate for TCS. Results from genetic testing may help providers weigh the risks and benefits of early airway evaluation and intervention in children with higher-risk genotypes.

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Section: Introductionmentioning

confidence: 99%

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis

Wenger

Dahl

Bhoj

et al. 2017

Genetics in Medicine

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Tracheal Cartilaginous Sleeve Association With Syndromic Midface Hypoplasia

Stater

Oomen

Modi

2015

JAMA Otolaryngol Head Neck Surg

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Tracheal cartilaginous sleeve can be associated with Beare-Stevenson syndrome. In infants with midface hypoplasia associated with a craniosynostosis syndrome undergoing tracheostomy, the surgeon must be prepared to encounter and manage tracheal cartilaginous sleeve intraoperatively. Bronchoscopy and needle localization can be beneficial when performing tracheostomy in these patients. Customized, shorter-length tracheostomy tubes should be considered for these patients.

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