{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T11:49:01Z","timestamp":1793015341079,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T00:00:00Z","timestamp":1577318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007857","name":"Intellectual and Developmental Disabilities Research Center","doi-asserted-by":"publisher","award":["1U54HD083092"],"award-info":[{"award-number":["1U54HD083092"]}],"id":[{"id":"10.13039\/100007857","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["1U54AR068069\u20100"],"award-info":[{"award-number":["1U54AR068069\u20100"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hearing loss (HL) is an extra\u2010skeletal manifestation of the connective tissue disorder osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of HL in COL1A1\/COL1A2\u2010related OI will contribute to a better clinical management of individuals with OI. We collected and analyzed pure\u2010tone audiometry data from 312 individuals with OI who were enrolled in the Linked Clinical Research Centers and the Brittle Bone Disorders Consortium. The prevalence, type, and severity of HL in COL1A1\/COL1A2\u2010related OI are reported. We show that the prevalence of HL in OI is 28% and increased with age in Type I OI but not in Types III and IV. Individuals with OI Types III and IV are at a higher risk to develop HL in the first decade of life when compared to OI Type I. We also show that the prevalence of SNHL is higher in females with OI compared to males. This study reveals new insights regarding prevalence of HL in OI including a lower general prevalence of HL in COL1A1\/COL1A2\u2010related OI than previously reported (28.3 vs. 65%) and high prevalence of SNHL in females. Our data support the need in early routine hearing evaluation in all types of OI that can be adjusted to the severity of the skeletal disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61464","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T07:44:47Z","timestamp":1577346287000},"page":"697-704","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0356-6889","authenticated-orcid":false,"given":"Keren","family":"Machol","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor D.","family":"Hadley","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jake","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cuthbertson","sequence":"additional","affiliation":[{"name":"College of Medicine, University of South Florida  Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Traboulsi","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo C.","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Citron","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery Hospital for Special Surgery  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sobiah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery Hospital for Special Surgery  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Citron","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery Hospital for Special Surgery  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery Hospital for Special Surgery  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Brookler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery Hospital for Special Surgery  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay R.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Department of Bone and Osteogenesis Imperfecta Kennedy Krieger Institute  Baltimore Maryland"},{"name":"Department of Medicine at Uniformed Services University of the Health Sciences  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Steiner","sequence":"additional","affiliation":[{"name":"University of Wisconsin School of Medicine and Public Health  Madison Wisconsin"},{"name":"Pediatrics and Molecular and Medical Genetics Oregon Health &amp; Science University  Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7786-7030","authenticated-orcid":false,"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle"},{"name":"Department of Pathology, Division of Medical Genetics University of Washington  Seattle"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H.","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Shriner's Hospital for Children and McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Durigova","sequence":"additional","affiliation":[{"name":"Shriner's Hospital for Children and McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Smith","sequence":"additional","affiliation":[{"name":"Motion Analysis Laboratory Shriners Hospitals for Children  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics Alfred I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vernon R.","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan H.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Texas Children's Hospital  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Members of the BBD Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandesh C. 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