Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics (대한후두음성언어의학회지)

The Korean Society of Laryngology, Phoniatrics and Logopedics. (대한후두음성언어의학회)
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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)
  • Received : 2021.12.30
  • Accepted : 2022.03.24
  • Published : 2022.04.30
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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.

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References

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