{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:39:41Z","timestamp":1789533581231,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5453,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 6 patients with short stature and progressive enchondromatous\u2010like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types.<\/jats:p><jats:p>An iliac crest biopsy in one of the patients with \u201ctype I\u201d disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.<\/jats:p>","DOI":"10.1002\/ajmg.1320360306","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:48:30Z","timestamp":1118537310000},"page":"279-284","source":"Crossref","is-referenced-by-count":28,"title":["Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions"],"prefix":"10.1002","volume":"36","author":[{"given":"Moshe","family":"Frydman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Bar\u2010Ziv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Preminger\u2010Shapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amichai","family":"Brezner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natan","family":"Brand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Ben\u2010Ami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen E.","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00356960"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.40.3.280"},{"key":"e_1_2_1_4_1","first-page":"75","article-title":"Spondylo\u2010enchondrodysplasie","volume":"66","author":"Chagnon S","year":"1985","journal-title":"J Radiol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.157.2.2413500"},{"key":"e_1_2_1_6_1","first-page":"125","article-title":"The spondylometaphyseal dysplasias, clinical radiologic and pathologic correlation","volume":"22","author":"Lachman R","year":"1979","journal-title":"Ann Radiol (Paris)"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.93"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197107082850202"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.7.779"},{"key":"e_1_2_1_10_1","first-page":"495","article-title":"Chondromes multiples avec atteinte rachidienne. Spondylo\u2010enchondroplasie et autres formes","volume":"61","author":"Sauvegrain J","year":"1980","journal-title":"J Radiol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1148\/118.1.133"},{"issue":"3","key":"e_1_2_1_12_1","first-page":"812","article-title":"Morphologic studies in skeletal dysplasias","volume":"96","author":"Sillence DO","year":"1979","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386711"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320360306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T04:30:35Z","timestamp":1698035435000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1002\/ajmg.1320360306"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360306","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}