{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:35:27Z","timestamp":1777523727531,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>\n                      Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder, often due to a mutation in\n                      <jats:italic>COL2A1<\/jats:italic>\n                      or\n                      <jats:italic>COL11A1<\/jats:italic>\n                      . Mutations in these genes cause collagen abnormalities affecting ocular, auditory, orofacial, and skeletal systems, including hearing loss, micrognathia, and cleft palate. Understanding the variability of hearing phenotypes based on genetic mutation has a significant impact on treatment and long-term care.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>A retrospective chart review of pediatric patients with a confirmed diagnosis of SS between January 2003 and December 2018 at a tertiary pediatric hospital was performed. Patients were excluded if they did not have genetic evaluation, craniofacial\/ear, nose, and throat evaluation, and\/or audiologic testing. Charts were reviewed for the following information: age, race, sex, SS diagnosis, genetic variant of SS, and audiological testing data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      There were 29 confirmed patients with SS who met criteria, 16 with type I (\n                      <jats:italic>COL2A1<\/jats:italic>\n                      ) and 13 with type II (\n                      <jats:italic>COL11A1<\/jats:italic>\n                      ). Of the 13 patients with type II, 12 (92%) demonstrated hearing loss, ranging in severity from mild to severe. In type I, 25% of patients had mild or resolved hearing loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      Results suggest that patients with type II SS are more likely to have congenital hearing loss than type I. Data also suggest that the\n                      <jats:italic>COL11A1<\/jats:italic>\n                      mutation shows consistently more severe hearing loss than the\n                      <jats:italic>COL2A1<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656211029519","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T04:46:55Z","timestamp":1625806015000},"page":"970-975","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Hearing Outcomes in Stickler Syndrome: Variation Due to\n                    <i>COL2A1<\/i>\n                    and\n                    <i>COL11A1<\/i>"],"prefix":"10.1177","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6455-9642","authenticated-orcid":false,"given":"Fadlullah","family":"Bath","sequence":"first","affiliation":[{"name":"University of Minnesota Medical School, Saint Paul, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery, Children\u2019s Minnesota, ENT and Facial Plastics Clinic, University of Minnesota, Saint Paul, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan","family":"Zavala","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery, Children\u2019s Minnesota, ENT and Facial Plastics Clinic, University of Minnesota, Saint Paul, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siva","family":"Chinnadurai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery, Children\u2019s Minnesota, ENT and Facial Plastics Clinic, University of Minnesota, Saint Paul, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-3247","authenticated-orcid":false,"given":"Brianne B.","family":"Roby","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery, Children\u2019s Minnesota, ENT and Facial Plastics Clinic, University of Minnesota, Saint Paul, MN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,7,9]]},"reference":[{"key":"e_1_3_2_2_1","unstructured":"Acke F Coucke P Vanakker O Hoornaert K Mortier G Dhooge I De Paepe A De Leenheer E Malfait F. Stickler syndrome: comprehensive clinical and molecular analysis in European Society of Pediatric Otorhinolaryngology 13th International congress Abstract book. 13th International Congress of the European Society of Pediatric Otorhinolaryngology (ESPO 2016). 2016. Accessed November 7 2020. http:\/\/hdl.handle.net\/1854\/LU-8033557"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-84"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-016-3896-6"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-020-06306-y"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.08.004"},{"key":"e_1_3_2_7_1","first-page":"493","article-title":"Uses and abuses of hearing loss classification","volume":"23","author":"Clark JG","year":"1981","unstructured":"Clark JG. Uses and abuses of hearing loss classification. ASHA. 1981;23:493\u2013500.","journal-title":"ASHA"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jgs.15545"},{"key":"e_1_3_2_9_1","unstructured":"Degree of Hearing Loss (no date). American Speech-Language-Hearing Association. American Speech-Language-Hearing Association. Accessed November 7 2020. \/public\/hearing\/degree-of-hearing-loss\/"},{"key":"e_1_3_2_10_1","unstructured":"Eggermont JJ. Hearing Loss: Causes Prevention and Treatment. Academic Press\/an imprint of Elsevier; 2017. Accessed February 5 2020. https:\/\/www-clinicalkey-com.ezp2.lib.umn.edu\/#!\/browse\/book\/3-s2.0-C20150048961"},{"key":"e_1_3_2_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.11.011"},{"key":"e_1_3_2_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1974.00780030005001"},{"key":"e_1_3_2_13_1","doi-asserted-by":"publisher","DOI":"10.1037\/a0029558"},{"key":"e_1_3_2_14_1","unstructured":"Reference GH. (no date). Stickler syndrome genetics home reference. Updated September 2020. Accessed January 25 2020. https:\/\/ghr.nlm.nih.gov\/condition\/stickler-syndrome"},{"key":"e_1_3_2_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101499"},{"key":"e_1_3_2_16_1","unstructured":"Robin NH Moran RT Ala-Kokko L. Stickler syndrome In: Adam MP. et al. (eds) GeneReviews\u00ae. University of Washington Seattle; 1993. Accessed November 7 2020. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1302\/"},{"key":"e_1_3_2_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30955"},{"key":"e_1_3_2_18_1","doi-asserted-by":"publisher","DOI":"10.1044\/2015_JSLHR-H-14-0075"},{"key":"e_1_3_2_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.2009.02124.x"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656211029519","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656211029519","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656211029519","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:21:42Z","timestamp":1777393302000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656211029519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,9]]},"references-count":18,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1177\/10556656211029519"],"URL":"https:\/\/doi.org\/10.1177\/10556656211029519","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,9]]}}}