{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:20:27Z","timestamp":1782249627871,"version":"3.54.5"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000862","name":"Doris Duke Charitable Foundation","doi-asserted-by":"publisher","award":["2014194"],"award-info":[{"award-number":["2014194"]}],"id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005345","name":"American Association for Dental, Oral, and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["ZIA\u2010DC000064"],"award-info":[{"award-number":["ZIA\u2010DC000064"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Loeys\u2010Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF\u2010\u00df signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study describes the audiologic, otologic, and craniofacial manifestations of LDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Consecutive cross\u2010sectional study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Tertiary medical research institute.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Audiologic and clinical evaluations were conducted among 36 patients (mean \u00b1 SD age, 24 \u00b1 17 years; 54% female) with genetically confirmed LDS. Cases were categorized into genetically based LDS types 1 to 4 (<jats:italic>TGFBR1<\/jats:italic>, <jats:italic>TGFBR2<\/jats:italic>, <jats:italic>SMAD3<\/jats:italic>, <jats:italic>TGFB2<\/jats:italic>, respectively). Audiometric characteristics included degree and type of hearing loss: subclinical, conductive, mixed, and sensorineural.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>LDS types 1 to 4\u00a0included 11, 13, 5, and 7 patients, respectively. In LDS\u20101, 27% had bilateral conductive hearing loss; 9%, unilateral mixed; and 36%, subclinical. In LDS\u20102, 38% had conductive hearing loss and 38% subclinical. In LDS\u20103 and LDS\u20104, 40% and 43% had bilateral sensorineural hearing loss, respectively. Degree of hearing loss ranged from mild to moderate. Bifid uvula was observed only in LDS\u20101 (55%) and LDS\u20102 (62%). Submucosal\/hard cleft palates were primarily in LDS\u20101 and LDS\u20102. Posttympanostomy tympanic membrane perforations occurred in 45% (10\/22 ears) of LDS\u20101 and LDS\u20102. There were 4 cases of cholesteatoma: 3\u00a0middle ear (LDS\u20101 and LDS\u20102) and 1 external ear canal (LDS\u20103).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Conductive hearing loss, bifid uvula\/cleft palate, and posttympanostomy tympanic membrane perforation are more common in LDS\u20101 and LDS\u20102 than LDS\u20103 and LDS\u20104, while sensorineural hearing loss was present only in LDS\u20103 and LDS\u20104. These LDS\u2010associated key clinical presentations may facilitate an early diagnosis of LDS and thus prompt intervention to prevent related detrimental outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1177\/01945998211008899","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T08:46:06Z","timestamp":1620722766000},"page":"357-362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Audiologic and Otologic Clinical Manifestations of Loeys\u2010Dietz Syndrome: A Heritable Connective Tissue Disorder"],"prefix":"10.1002","volume":"166","author":[{"given":"Jun W.","family":"Jeon","sequence":"first","affiliation":[{"name":"Office of the Clinical Director National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Christensen","sequence":"additional","affiliation":[{"name":"Audiology Unit Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Chisholm","sequence":"additional","affiliation":[{"name":"Audiology Unit Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Zalewski","sequence":"additional","affiliation":[{"name":"Audiology Unit Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjohn","family":"Rasooly","sequence":"additional","affiliation":[{"name":"Food Allergy Research Section Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caeden","family":"Dempsey","sequence":"additional","affiliation":[{"name":"Food Allergy Research Section Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaina","family":"Magnani","sequence":"additional","affiliation":[{"name":"NIH Clinical Center National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Frischmeyer\u2010Guerrerio","sequence":"additional","affiliation":[{"name":"Food Allergy Research Section Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C.","family":"Brewer","sequence":"additional","affiliation":[{"name":"Audiology Unit Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung Jeffrey","family":"Kim","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Georgetown University Hospital Washington, DC 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