{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:45Z","timestamp":1792167225767,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with cervical instability and attendant neurological compromise and emphasise the radiological characteristics which delineate this condition. Cervical vertebral abnormalities, including malformation of the odontoid process, have been observed in some forms of spondyloepiphyseal dysplasia, but rarely lead to neurological sequelae, in contrast to the pedigree we describe. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:49Z","timestamp":1118511889000},"page":"432-437","source":"Crossref","is-referenced-by-count":14,"title":["New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto\u2010axial instability"],"prefix":"10.1002","volume":"52","author":[{"given":"W.","family":"Reardon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. M.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. G.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Kendall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M.","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.15.6624"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/23.1.119"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2543071"},{"key":"e_1_2_1_5_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/17453678809149433"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.2.283"},{"key":"e_1_2_1_8_1","first-page":"598","article-title":"Dysplasia spondyloepiphysaria congenita","volume":"21","author":"Spranger J","year":"1966","journal-title":"Helv Paed Acta"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/94.2.313"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959352"},{"key":"e_1_2_1_11_1","volume-title":"Atlas of Skeletal Dysplasias","author":"Wynne\u2010Davies R","year":"1985"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1302\/0301-620X.64B4.6807992","article-title":"Two clinical variants of spondyloepiphyseal dysplasia congenita","volume":"64","author":"Wynne\u2010Davies R","year":"1982","journal-title":"J Bone Joint Surg"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320520408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320520408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T23:36:25Z","timestamp":1698190585000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320520408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1002\/ajmg.1320520408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320520408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}