Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Tara L WengerJohn DahlElizabeth J BhojAnna RosenDonna McDonald-McGinnElaine ZackaiIan JacobsCarrie L HeikeAnne HingAvni SantaniAndrew F InglisKathleen C Y SieMichael CunninghamJonathan PerkinsPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
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.Genet Med 19 1, 62-68.