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Question: Syndromes

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The pediatric genetics clinic is sending over a patient with respiratory distress. As you prepare for the patient’s arrival, you have a chance to look at the chart. 

Which genetic syndrome would most concern you for a difficult airway?
8 votes

pemsou5_wp • June 15, 2021

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  1. Kelly June 21, 2021 - 12:28 pm Reply

    Treacher Collins syndrome is characterized by mandibular and maxillary hypoplasia, resulting in a potentially difficult airway. Other syndromes with similar issues include Pierre Robin sequence, Goldenhar syndrome, and Apert syndrome. Trisomy 21 patients commonly have several issues: atlanto-axial instability, tonsillar and adenioidal hypertrophy, relative macroglossia. Patients with Beckwith-Wiedemann syndrome and with mucopolysaccaridoses also have macroglossia. Patients with Klippel-Feil syndrome have severe limitation to neck mobility. Prader-Willi syndrome patients are often morbidly obese. These are some of the most common genetic syndromes that lead to a difficult airway. Planning for alternate airway techniques and backup is key when managing these patients.

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