{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T21:52:43Z","timestamp":1758405163991,"version":"3.40.5"},"reference-count":82,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T00:00:00Z","timestamp":1562976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Our goal was to systematically review the literature regarding otolaryngology manifestations of CdLS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We systematically reviewed the PubMed, Embase, CINAHL, Scopus, and Google Scholar databases for original articles of otolaryngology manifestations for patients with CdLS. These articles were analyzed, and pooled prevalence was calculated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analyzed 1,310 patients included in 35 case series and 34 case reports. Hearing loss was present for many patients (27 studies), with sensorineural hearing loss affecting 40.3% (95% confidence interval [CI]: 17.3\u201363.4) and conductive affecting 22.7% (95% CI: 5.7\u201339.7). Recurrent acute otitis media was the most frequent infectious manifestation, with 56.5% (95% CI: 34.1\u201378.4) in seven studies, followed by recurrent airway infections with 44.1% (95% CI: 11.0\u201387.1) in five studies. Forty\u2010nine (49.7%) percent of patients (95% CI: 25.9\u201373.6) in nine studies had dysphagia, and 76.6% (95% CI: 59.8\u201393.3) in four studies had some degree of dysphonia. Craniofacial anomalies were reported in 30 studies, with micrognathia (53.1%; 95% CI: 34.1\u201372.1) and high arched palate (70.6%; 95% CI: 56.5\u201384.8) commonly reported. Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3\u201388.4), dentition (65.1%; 95% CI: 27.2\u2013100), mouth (85.5%; 95% CI: 76.2\u201393.8), and eyelashes (87.1%; 95% CI: 77.2\u201396.9). Sleep\u2010disordered breathing or obstructive sleep apnea affected 25.8% (95% CI: 11.4\u201340.2) of patients (7 studies). Airway anomalies were reported in 11 case reports.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first comprehensive evaluation of otolaryngologic manifestations in the CdLS literature. Most reported hearing loss and craniofacial anomalies. Sleep disorders occurred in a minority of patients, whereas airway disorders were primarily reported in case reports. These conditions should be further examined given their potential life\u2010threatening implications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Level of Evidence<\/jats:title><jats:p>3a <jats:italic>Laryngoscope<\/jats:italic>, 130:E122\u2013E133, 2020<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.28169","type":"journal-article","created":{"date-parts":[[2019,7,13]],"date-time":"2019-07-13T15:33:26Z","timestamp":1563032006000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cornelia de lange manifestations in otolaryngology: A systematic review and meta\u2010analysis"],"prefix":"10.1002","volume":"130","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8300-3220","authenticated-orcid":false,"given":"Mathieu","family":"Bergeron","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology Centre Hospitalier Universitaire Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Chang","sequence":"additional","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0997-9692","authenticated-orcid":false,"given":"Stacey L.","family":"Ishman","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head &amp; Neck Surgery University of Cincinnati College of Medicine  Cincinnati Ohio U.S.A."},{"name":"Division of Otolaryngology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio U.S.A."},{"name":"Division of Pulmonary and Sleep Medicine Cincinnati Children's Hospital Medical Center  Cincinnati Ohio U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220110"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32016"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470722"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31502"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470703"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_6_8_1","first-page":"e123","article-title":"Preferred reporting items for systematic reviews and meta\u2010analyses: the PRISMA Statement","volume":"3","author":"Moher D","year":"2009","journal-title":"Open Med"},{"key":"e_1_2_6_9_1","unstructured":"PhillipsB BallC SackettD et al. 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