{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T12:32:21Z","timestamp":1768480341207,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,9,6]],"date-time":"2011-09-06T00:00:00Z","timestamp":1315267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives\/Hypothesis:<\/jats:title><jats:p>To define the audiologic and otologic phenotype of Hutchinson\u2010Gilford progeria syndrome (HGPS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design:<\/jats:title><jats:p>Prospective case series.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Fifteen patients with HGPS were enrolled in a prospective natural history study; 14 were evaluated in the neurotology clinic, and 11 received audiologic evaluations. The physical exam and audiologic findings of these patients were reviewed to define an otologic and audiologic phenotype for HGPS in the largest series of subjects in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>All patients were noted to have stiff auricular cartilages, small or absent lobules, and hypoplasia of the lateral soft\u2010tissue portion of the external ear canal leading to a shortened canal. Ten of 14 patients (71%) had dry cerumen impaction, and four of 14 patients (29%) reported a history of recurrent otitis media. Nineteen of 22 ears (86.4%) demonstrated low\u2010frequency conductive hearing loss in the 250 to 500 Hz range. Sixteen of 22 ears (73%) had type A tympanograms; three of 22 ears (14%) displayed bimodal or \u201cW\u201d peaked tympanograms; two of 22 ears (9%) had type B tympanograms; one of 22 ears (4%) had a type C tympanogram. Nine of 10 patients had distortion product otoacoustic emissions consistent with normal peripheral hearing sensitivity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>HGPS is caused by a mutation in the LMNA gene resulting in the production of an abnormal nuclear protein; this in turn affects nuclear structure and function. Patients with HGPS have characteristic otologic features due to cartilaginous and subcutaneous tissue abnormalities and typically demonstrate low\u2010frequency conductive hearing loss despite largely normal tympanometry. It is important to be aware of these conditions in managing these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.22151","type":"journal-article","created":{"date-parts":[[2011,9,6]],"date-time":"2011-09-06T18:40:30Z","timestamp":1315334430000},"page":"2250-2255","source":"Crossref","is-referenced-by-count":15,"title":["Otologic and audiologic manifestations of hutchinson\u2010gilford progeria syndrome"],"prefix":"10.1002","volume":"121","author":[{"given":"Elizabeth","family":"Guardiani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Zalewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Brewer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Merideth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Introne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann C. M.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Jeffrey","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,6]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31346"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706898"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.110.209460"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402943101"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80229-4"},{"key":"e_1_2_7_8_2","first-page":"493","article-title":"Uses and abuses of hearing loss classification","volume":"23","author":"Clark J","year":"1981","journal-title":"ASHA"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.3109\/00206098709081549"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1970.04310040005002"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1357"},{"key":"e_1_2_7_12_2","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/S0030-6665(20)30312-1","article-title":"The external auditory canal: anatomy and physiology","volume":"25","author":"Kelly K","year":"1996","journal-title":"Otolaryngol Clin North Am"},{"key":"e_1_2_7_13_2","volume-title":"Cummings Otolaryngology: Head and Neck Surgery","author":"Cummings C","year":"2005"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.09-129098"},{"key":"e_1_2_7_15_2","first-page":"87","article-title":"Progeria: Audiologic aspects","volume":"79","author":"Nelson M","year":"1962","journal-title":"Arch Pediatr"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348946507400208"},{"key":"e_1_2_7_17_2","first-page":"384","article-title":"Cardiovascular abnormalities in progeria","volume":"105","author":"Baker P","year":"1981","journal-title":"Arch Pathol Med"},{"key":"e_1_2_7_18_2","first-page":"116","article-title":"Audiologic and otolaryngologic findings in progeria: case report","volume":"4","author":"Hall JW","year":"1993","journal-title":"J Am Acad Audiol"},{"key":"e_1_2_7_19_2","first-page":"354","article-title":"Tympanometry: ASHA working group on aural acoustic\u2010immittance measurements committee on audiologic evaluation","author":"Shanks J","year":"1988","journal-title":"J Speech Hear Disord"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080902"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1258\/0022215041917790"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.3766\/jaaa.15.4.4"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-199306000-00008"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-199810000-00001"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1044\/1059-0889(2003\/019)"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006454-200009000-00034"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.22151","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.22151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:22:05Z","timestamp":1696926125000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.22151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,6]]},"references-count":25,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/lary.22151"],"URL":"https:\/\/doi.org\/10.1002\/lary.22151","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,6]]}}}