{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:23:16Z","timestamp":1781079796891,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T00:00:00Z","timestamp":1372896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Loeys\u2013Dietz syndrome is a recently recognized connective tissue disorder with widespread systemic involvement. Little is known about its skeletal phenotype. Our goal was to investigate the risk of fracture and incidence of low bone mineral density in patients with Loeys\u2013Dietz syndrome. We performed a cross\u2010sectional, descriptive, survey\u2010based study with subsequent chart review from July 2011 to April 2012. Fifty\u2010seven patients (26 men, 31 women) with Loeys\u2013Dietz syndrome confirmed by genetic testing completed the survey (average age, 25.3 years; range, 0.9\u201379.6 years). There were a total of 51 fractures (33 patients): 35 fractures in the upper extremities, 14 in the lower extremities, and two in the spine. Fourteen patients (24.6%) reported two or more fractures. There was a 50% risk of fracture by age 14 years. The incidence of any fracture in this cohort was 3.86 per 100 person\u2010years. Seventeen patients had dual\u2010energy X\u2010ray absorptiometry scans available for review, 11 (64.7%) of whom had at least one fracture. Thirteen included lumbar spine absorptiometry reports; eight (61.5%) indicated low or very low bone mineral density. In the left hip, ten of 14 participants (71.4%) had low or very low bone mineral density. In the left femoral neck, nine of 13 participants (69.2%) had low or very low bone mineral density. The lowest Z\u2010 and T\u2010scores were not associated with an increased number of fractures. Patients with Loeys\u2013Dietz syndrome have a high risk of fracture and a high incidence of low bone mineral density. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36029","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T09:22:00Z","timestamp":1372929720000},"page":"1910-1914","source":"Crossref","is-referenced-by-count":25,"title":["Increased fracture risk and low bone mineral density in patients with loeys\u2013dietz syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Eric W.","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roosevelt U.","family":"Offoha","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gretchen L.","family":"Oswald","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Skolasky","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashvin K.","family":"Dewan","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gehua","family":"Zhen","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay R.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry C.","family":"Dietz","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul D.","family":"Sponseller","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery The Johns Hopkins University Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1470"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.2.15.2903838"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.01140"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2004-0001"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33356"},{"key":"e_1_2_5_7_1","volume-title":"Rockwood and Green's fractures in adults","author":"Koval KJ","year":"2006"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31817f3661"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1979"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e32833f0220"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36029","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:00:39Z","timestamp":1696633239000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,4]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36029"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36029","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,4]]}}}