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  • Title: Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity.
    Author: Mahmud N, Abdul Latif H, Mohd Zaki F, Goh BS.
    Journal: BMJ Case Rep; 2021 Apr 02; 14(4):. PubMed ID: 33811090.
    Abstract:
    Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.
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