{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:35Z","timestamp":1760747615417,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,7]]},"abstract":"<jats:p>We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar cases confirm the uniqueness of this new entity. The chondrodysplasias with disorganised development of cartilage are far from being completely understood. Recently, several disorders within this group have been well defined, including metachondromatosis and spondyloenchondroplasia, but there still remain numerous clinical subgroups that are very difficult to classify.<\/jats:p>","DOI":"10.1136\/jmg.28.7.485","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"485-489","source":"Crossref","is-referenced-by-count":21,"title":["Genochondromatosis."],"prefix":"10.1136","volume":"28","author":[{"given":"M","family":"Le Merrer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Fressinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,7,1]]},"reference":[{"key":"ref_1","first-page":"138","article-title":"Zur Erblichkeit der Knochenchondrome. Fortsch Rontgensir","volume":"90","author":"Rossberg, A.","year":"1959","unstructured":"Rossberg A. Zur Erblichkeit der Knochenchondrome. Fortsch Rontgensir 1959;90: 138-9."},{"key":"ref_2","first-page":"35","article-title":"Hereditary multiple exostosis","volume":"16","author":"Solomon, L.","year":"1964","unstructured":"Solomon L. Hereditary multiple exostosis. Am Hum Genet 1964;16:35 1-63.","journal-title":"Am Hum Genet"},{"key":"ref_3","first-page":"246","volume":"109","author":"metachondromatose. Z Kinderheikd, Maroteaux P.La","year":"1971","unstructured":"Maroteaux P. La metachondromatose. Z Kinderheikd 1971;109: 246-61."},{"issue":"36","key":"ref_4","first-page":"182","article-title":"La dyschondroplasie, chondromatose multiple du squelette","volume":"1960","author":"Maroteaux, P.; Lamy, M.","unstructured":"Maroteaux P, Lamy M. La dyschondroplasie, chondromatose multiple du squelette. Semin Hop Paris 1960;36:182-93.","journal-title":"Semin Hop Paris"},{"key":"ref_5","first-page":"62","article-title":"Trois cas de maladie d'Ollier dans une fratrie. Bull Mem Soc Med Hop","volume":"3","author":"Lamy, M.; Aussannaire, M.; Jammet, M.L.; Nezelof, C.","year":"1954","unstructured":"Lamy M, Aussannaire M, Jammet ML, Nezelof C. Trois cas de maladie d'Ollier dans une fratrie. Bull Mem Soc Med Hop Paris 1954;3:62.","journal-title":"Paris"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.7.485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:11:31Z","timestamp":1760728291000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.7.485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,7]]},"references-count":5,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1991,7,1]]},"published-print":{"date-parts":[[1991,7]]}},"alternative-id":["10.1136\/jmg.28.7.485"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.7.485","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,7]]}}}