[KSCI] Korea Science Citation Index Service

http://dx.doi.org/10.22469/jkslp.2022.33.1.50

Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2

Oh, Jayoung (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul National University Hospital)
Kwon, Seong Keun (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul National University Hospital)

Publication Information

Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics / v.33, no.1, 2022 , pp. 50-53 More about this Journal

Abstract

A case is presented to show tracheal cartilaginous sleeve in Antley-Bixler syndrome, which is the second case to be reported so far. In this patient, W290C mutation in FGFR2, the mutation previously known to cause Pfeiffer syndrome, was newly identified. After receiving tracheostomy, the patient recovered from repetitive respiratory distress, and retrieved normal respiratory function. Thorough airway examination and active surgical management such as tracheostomy is necessary in children with syndromic craniosynostosis, including Antley-Bixler syndrome.

Keywords

Antley-Bixler syndrome; Tracheal cartilaginous sleeve; FGFR2; Tracheostomy;

Citations & Related Records

Reference

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