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

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 rec...

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Published inJournal of The Korean Society of Laryngology, Phoniatrics and Logopedics Vol. 33; no. 1; pp. 50 - 53
Main Authors Oh, Jayoung, Kwon, Seong Keun
Format Journal Article
LanguageEnglish
Published 대한후두음성언어의학회 30.04.2022
Subjects
이비인후과학
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ISSN2508-268X
2508-5603
DOI10.22469/jkslp.2022.33.1.50

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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.
AbstractList 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. KCI Citation Count: 0
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.
Author Kwon, Seong Keun
Oh, Jayoung
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Cites_doi 10.1038/gim.2016.60
10.1002/ajmg.10449
10.1016/j.jpedsurg.2009.09.005
10.1038/sj.jp.7210568
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  volume-title: Tracheal cartilaginous sleeve in syndromic craniosynostosis: An underrecognized source of significant morbidity and mortality
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Snippet 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...
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Title Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2
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