{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:50:50Z","timestamp":1762458650806},"reference-count":14,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T00:00:00Z","timestamp":1213056000000},"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":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by <jats:italic>DTDST<\/jats:italic> mutations. However it has been recently reported in a dominant MED case with a <jats:italic>COL9A2<\/jats:italic> mutation. We report on a new radiographic patellar finding in a patient with pseudoachondroplasia and a heterozygous <jats:italic>COMP<\/jats:italic> mutation. It is similar to the radiographic appearance of fusing multilayered patellae in rMED cases. This led us to search the International Skeletal Dysplasia Registry for similar abnormalities. We did not observe this finding in other skeletal dysplasias or other pseudoachondroplasia cases. However we found an accessory ossification center of the patella in another pseudoachondroplasia case. Thus, we hypothesize that variable defects of cartilage extracellular matrix can result in similar abnormal patellar ossifications, and emphasize the importance of a lateral knee radiograph in patients with the pseudoachondroplasia\u2010MED bone dysplasia group of disorders. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32313","type":"journal-article","created":{"date-parts":[[2008,6,10]],"date-time":"2008-06-10T22:18:30Z","timestamp":1213136310000},"page":"1682-1686","source":"Crossref","is-referenced-by-count":16,"title":["Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia"],"prefix":"10.1002","volume":"146A","author":[{"given":"Nithiwat","family":"Vatanavicharn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.65"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-330"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng573"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/324023"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<510::AID-AJMG14>3.0.CO;2-F"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-325"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201314"},{"key":"e_1_2_7_9_1","volume-title":"Atlas of normal roentgen variants that may simulate disease","author":"Keats TE","year":"1992"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1323-4"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20282"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1996.tb56291.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30481"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302328"},{"key":"e_1_2_7_15_1","first-page":"621","article-title":"Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation","volume":"36","author":"Superti\u2010Furga A","year":"1999","journal-title":"J Med Genet"}],"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.32313","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:36:29Z","timestamp":1697618189000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,10]]},"references-count":14,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1002\/ajmg.a.32313"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32313","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,10]]}}}