Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

ABSTRACT:

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 a

SUBMITTER: Wenger TL 

PROVIDER: S-EPMC5846326 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature