{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:12:26Z","timestamp":1774645946693,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T00:00:00Z","timestamp":1221523200000},"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":[[2008,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a heritable disorder characterized by osteoporosis and increased susceptibility to fracture. All children with severe OI have extreme short stature and some have \u201cpopcorn\u201d calcifications, areas of disorganized hyperdense lines in the metaphysis and epiphysis around the growth plate on lower limb radiographs. Popcorn calcifications were noted on radiographs of two children with non\u2010lethal type VIII OI, a recessive form caused by P3H1 deficiency. To determine the incidence, progression, and molecular correlations of popcorn calcifications, we retrospectively examined serial lower limb radiographs of 45 children with type III or IV OI and known dominant mutations in type I collagen. Popcorn calcifications were present in 13 of 25 type III (52%), but only 2 of 20 type IV (10%), OI children. The mean age of onset was 7.0 years, with a range of 4\u201314 years. All children with popcorn calcifications had this finding in their distal femora, and most also had calcifications in proximal tibiae. While unilateral popcorn calcification contributes to femoral growth deficiency and leg length discrepancy, severe linear growth deficiency, and metaphyseal flare do not differ significantly between type III OI patients with and without popcorn calcifications. The type I collagen mutations associated with popcorn calcifications occur equally in both <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic>, and have no preferential location along the chains. These data demonstrate that popcorn calcifications are a frequent feature of severe OI, but do not distinguish cases with defects in collagen structure (primarily dominant type III OI) or modification (recessive type VIII OI). \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32508","type":"journal-article","created":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T21:23:28Z","timestamp":1221600208000},"page":"2725-2732","source":"Crossref","is-referenced-by-count":35,"title":["Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Abimbola A.","family":"Obafemi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy I.","family":"Bulas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Troendle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan C.","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,9,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20799"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa063804"},{"key":"e_1_2_6_4_1","first-page":"940","article-title":"Osteogenesis imperfecta in childhood and adolescence","volume":"141","author":"Brenner RE","year":"1993","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/00003086-198109000-00007","article-title":"The morbid anatomy of the skeleton in osteogenesis imperfecta","volume":"159","author":"Bullough PG","year":"1981","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch8"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1968"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.136.2.7403509"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.050109"},{"key":"e_1_2_6_10_1","first-page":"2887","volume-title":"Nelson textbook of pediatrics","author":"Marini JC","year":"2007"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.2.237"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.14.4474"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.08.039"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.64.070195.002155"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230309"},{"key":"e_1_2_6_18_1","first-page":"185","article-title":"Osteogenesis imperfecta\u2013lower limb in osteogenesis imperfecta","volume":"70","author":"Sulko J","year":"2005","journal-title":"Chir Narzadow Ruchu Ortop Pol"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00297295"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(02)00790-1"}],"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.32508","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32508","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:20:44Z","timestamp":1697620844000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,16]]},"references-count":19,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["10.1002\/ajmg.a.32508"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32508","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,16]]}}}