{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:01:20Z","timestamp":1761102080056},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"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":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic> gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra\u2010structure at electron microscopy. The combined clinical, surgical, histological, ultra\u2010structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre\u2010operative assessment and consideration of the risks and benefits of cardiac surgery. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36285","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:47:33Z","timestamp":1386276453000},"page":"386-391","source":"Crossref","is-referenced-by-count":13,"title":["Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Anthony M.","family":"Vandersteen","sequence":"first","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service North West London Hospitals NHS Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.P.","family":"Ferguson","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Laboratory Science University of Oxford, John Radcliffe Hospital Oxford United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Sawle","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service North West London Hospitals NHS Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca C.","family":"Pollitt","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Sheffield Children's Hospitals NHS Foundation Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan E.","family":"Holder","sequence":"additional","affiliation":[{"name":"North West Thames Clinical Genetics Service North West London Hospitals NHS Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North West Thames Clinical Genetics Service North West London Hospitals NHS Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil","family":"Moat","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery Royal Brompton &amp; Harefield NHS Foundation Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. Michael","family":"Pope","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service North West London Hospitals NHS Trust Harrow Middlesex United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a1ff7b"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2009.00973.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-physiol-012110-142145"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.73.1.54"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-78"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2011.43"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2010.11.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/420794"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds183"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181f01617"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.10.007"},{"key":"e_1_2_6_16_1","first-page":"198","article-title":"A case of spontaneous intestinal perforation in Osteogenesis Imperfecta","volume":"2","author":"Wheatley K","year":"2010","journal-title":"J Clin Med Res"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.183095"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-4975(95)00706-Q"}],"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.36285","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:19:39Z","timestamp":1696583979000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,5]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1002\/ajmg.a.36285"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36285","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,5]]}}}