Clinically relevant cartilaginous subglottic stenosis was found in 2 patients with Shwachman-Diamond syndrome (SDS) for which tracheotomy was required in one case. Considering the pathogenesis of SDS, including deficient chondrogenesis, we hypothesise that subglottic stenosis may be a rare symptom of SDS. Otorhinolaryngologist and paediatricians should be aware of the risk of airway pathology in patients with SDS.

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International Journal of Pediatric Otorhinolaryngology
Erasmus MC: University Medical Center Rotterdam

Keereweer, S, Appel, I.M, & Hoeve, L.J. (2012). Subglottic stenosis in Shwachman-Diamond syndrome - Is there a link?. International Journal of Pediatric Otorhinolaryngology, 76(10), 1531–1532. doi:10.1016/j.ijporl.2012.06.030