{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:44:43Z","timestamp":1700153083423},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,7,14]],"date-time":"2003-07-14T00:00:00Z","timestamp":1058140800000},"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":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three unrelated patients affected by a characteristic metaphyseal chondrodysplasia with cup\u2010shaped metaphyses of the knees are described. Lower femoral and upper tibial cone\u2010shaped epiphyses were embedded in the metaphyses. Main clinical features are short stature, shortening of the lower limbs, limitation of knee extension, and normal hands length. Radiographs of skull, spine, and hands showed no abnormality. This particular appearance of the knees has been seldom described in acquired disease such as repeated injuries, meningoccocemia, scurvy, and hypervitaminosis A. Metaphyseal dysplasias with these distinctive radiological findings of the knees are uncommon. Differential diagnosis includes trichoscyphodysplasia and acroscyphodysplasia among others. Two other cases reported by Kozlowski showed the most similarities to our three cases and defined a new form of metaphyseal dysplasia with specific lower limbs involvement and cup\u2010shaped metaphyses. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20411","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T09:00:28Z","timestamp":1071219628000},"page":"60-66","source":"Crossref","is-referenced-by-count":4,"title":["Metaphyseal chondrodysplasia with cone\u2010shaped epiphyses: A specific form involving the lower limbs"],"prefix":"10.1002","volume":"124A","author":[{"given":"Anne","family":"Dieux\u2010Co\u00ebslier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"Holder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Boute","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Manouvrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,7,14]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"106","article-title":"Su un caso di disostosi periferica","volume":"18","author":"Bellini F","year":"1966","journal-title":"Minerva Pediatr"},{"key":"e_1_2_4_3_1","first-page":"365","article-title":"Wedge\u2010shaped epiphyses of the knees in two siblings: A new recessive rare dysplasia?","volume":"39","author":"Bellini F","year":"1984","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.108.3.451"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.5.371"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012440"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-60-715-707"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1063541"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00347374"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1995.tb00293.x"},{"key":"e_1_2_4_11_1","first-page":"330","article-title":"Metaphyseal dysplasia\u2010Bellini type. Report of two cases","volume":"89","author":"Kozlowski K","year":"1995","journal-title":"Radiol Med"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03043.x"}],"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.20411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:25:15Z","timestamp":1700151915000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,14]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/ajmg.a.20411"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20411","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,14]]}}}