• A&A practice · May 2020

    Anesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report.

    • Yoshikazu Yamaguchi, Ajay D'Mello, Brittany L Willer, Graciela Argote-Romero, and Joseph D Tobias.
    • From the Department of Anesthesiology & Pain Medicine, Nationwide Children's Hospital, Columbus, Ohio.
    • A A Pract. 2020 May 1; 14 (7): e01222.

    AbstractKleefstra syndrome (KS) is an autosomal dominant disorder caused by a chromosomal deletion at 9q34.3 resulting in pathogenic variants of the gene that codes for the enzyme, euchromatin histone methyltransferase 1 (EHMT1). KS is a rare, yet clinically relevant congenital disorder for anesthesiologists because of its potential for cardiac and craniofacial involvement. We present a 3-month-old patient with KS who required anesthetic care for diagnostic laryngoscopy and rigid bronchoscopy. The end-organ effects of KS are reviewed and our anesthetic care presented.

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