{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T02:54:32Z","timestamp":1785207272167,"version":"3.55.0"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T00:00:00Z","timestamp":1452729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007338","name":"Foundation for Barnes-Jewish Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK067145"],"award-info":[{"award-number":["DK067145"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)\u2010deficiency juvenile Paget disease (JPD). AO and auricular calcification refer interchangeably to rigid pinnae, sparing the ear lobe, from various etiologies. JPD is a rare Mendelian disorder characterized by elevated serum alkaline phosphatase activity accompanied by skeletal pain and deformity from rapid bone turnover. Autosomal recessive transmission of loss\u2010of\u2010function mutations within <jats:italic>TNFRSF11B<\/jats:italic> encoding OPG accounts for most JPD (JPD1). JPD2 results from heterozygous constitutive activation of <jats:italic>TNFRSF11A<\/jats:italic> encoding RANK. Other causes of JPD remain unknown. In 2007, we reported a 60\u2010year\u2010old man with JPD1 who described hardening of his external ears at age 45 years, after 4 years of treatment with bisphosphonates (BPs). Subsequently, we noted rigid pinnae in a 17\u2010year\u2010old boy and 14\u2010year\u2010old girl, yet pliable pinnae in a 12\u2010year\u2010old boy, each with JPD1 and several years of BP treatment. Cranial imaging indicated cortical bone within the pinnae of both teenagers. Radiologic studies of our three JPD patients without mutations in <jats:italic>TNFRSF11B<\/jats:italic> showed normal auricles. Review of the JPD literature revealed possible AO in several reports. Two of our JPD1 patients had experienced difficult tracheal intubation, raising concern for mineralization of laryngeal elastic cartilage. Thus, AO is a newly recognized feature of JPD1, possibly exacerbated by BP treatment. Elastic cartilage at other sites in JPD1 might also ossify, and warrants investigation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37536","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T12:03:36Z","timestamp":1452773016000},"page":"978-985","source":"Crossref","is-referenced-by-count":17,"title":["Auricular ossification: A newly recognized feature of osteoprotegerin\u2010deficiency juvenile Paget disease"],"prefix":"10.1002","volume":"170","author":[{"given":"Gary S.","family":"Gottesman","sequence":"first","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Madson","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[{"name":"Mallinckrodt Institute of Radiology Washington University School of Medicine at St. Louis Children's Hospital St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Nenninger","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Wenkert","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"},{"name":"Division of Bone and Mineral Diseases at Barnes\u2010Jewish Hospital Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospital for Children St. Louis Missouri"},{"name":"Division of Bone and Mineral Diseases at Barnes\u2010Jewish Hospital Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0755"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","unstructured":"AwJ DaviesR CookJ\u2010L. 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