{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:48:53Z","timestamp":1780472933890,"version":"3.54.1"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,7,12]],"date-time":"2012-07-12T00:00:00Z","timestamp":1342051200000},"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 C"],"published-print":{"date-parts":[[2012,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The so\u2010called \u201cenchondromatoses\u201d are skeletal disorders defined by the presence of ectopic cartilaginous tissue within bone tissue. The clinical and radiographic features of the different enchondromatoses are distinct, and grouping them does not reflect a common pathogenesis but simply a similar radiographic appearance and thus the need for a differential diagnosis. Recent advances in the understanding of their molecular and cellular bases confirm the heterogeneous nature of the different enchondromatoses. Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are produced by a dysregulation of chondrocyte proliferation, while others (such as spondyloenchondrodysplasia or dysspondyloenchondromatosis) are caused by defects in structure or metabolism of cartilage or bone matrix. In other forms (e.g., the dominantly inherited genochondromatoses), the basic defect remains to be determined. The classification, proposed by Spranger and associates in 1978 and tentatively revised twice, was based on the radiographic appearance, the anatomic sites involved, and the mode of inheritance. The new classification proposed here integrates the molecular genetic advances and delineates phenotypic families based on the molecular defects. Reference radiographs are provided to help in the diagnosis of the well\u2010defined forms. In spite of advances, many cases remain difficult to diagnose and classify, implying that more variants remain to be defined at both the clinical and molecular levels. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31331","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T20:49:25Z","timestamp":1342212565000},"page":"154-164","source":"Crossref","is-referenced-by-count":36,"title":["Enchondromatosis revisited: New classification with molecular basis"],"prefix":"10.1002","volume":"160C","author":[{"given":"Andrea","family":"Superti\u2010Furga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,7,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.994"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00356960"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200501000-00002"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30732"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002050"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-012-1442-1"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33567"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn176"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<1::AID-AJMG1>3.0.CO;2-7"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450413"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360306"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380418"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050510"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00004"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng844"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02015360"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439883"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012112"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.749"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.485"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp553"},{"key":"e_1_2_11_24_1","first-page":"399","article-title":"Di un caso di encondroma ed angioma multiplo","volume":"3","author":"Maffucci A","year":"1881","journal-title":"Movimento medico\u2010chirurgico Napoli"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442274"},{"key":"e_1_2_11_26_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000333098","article-title":"Dysspondyloenchondromatosis: Another COL2A1\u2010related skeletal dysplasia","volume":"1","author":"Nakane T","year":"2011","journal-title":"Mol Syndromol"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33414"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-006-0161-x"},{"key":"e_1_2_11_29_1","first-page":"23","article-title":"La dyschondroplasie","volume":"93","author":"Ollier L","year":"1900","journal-title":"Lyon Med"},{"key":"e_1_2_11_30_1","first-page":"557","article-title":"Enchondromatosis: Insights on the different subtypes","volume":"3","author":"Pansuriya TC","year":"2010","journal-title":"Int J Clin Exp Pathol"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1004"},{"key":"e_1_2_11_32_1","first-page":"3","article-title":"Disostosis metafisaria. 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