title: Subglottic stenosis in Shwachman-Diamond syndrome - is there a link?
abstract: 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.
authors: Department of Otorhinolaryngology, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, The Netherlands. s.keereweer@erasmusmc.nl
authors: S
authors: S
authors: Keereweer
authors: I M
authors: IM
authors: Appel
authors: L J
authors: LJ
authors: Hoeve
mesh_terms: D001855:Bone Marrow Diseases / Q000150:complications*; D004417:Dyspnea / Q000209:etiology; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007829:Laryngostenosis / Q000150:complications* / Q000628:therapy; D008068:Lipomatosis / Q000150:complications*; D008297:Male; D012135:Respiratory Sounds / Q000209:etiology; D000081003:Shwachman-Diamond Syndrome; D014140:Tracheotomy