{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T02:27:13Z","timestamp":1749522433141},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3501,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end\u2010plate indentations) and brachydactyly. Our patient also manifested a characteristic \u201cpugilistic\u201d face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"139-142","source":"Crossref","is-referenced-by-count":16,"title":["Spondyloperipheral dysplasia"],"prefix":"10.1002","volume":"59","author":[{"given":"G.","family":"Sorge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ruggieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280310"},{"key":"e_1_2_1_3_1","first-page":"59","article-title":"An unclassifiable type of spondyloperipheral epiphyseal dysplasia associated with 21 trisomy","volume":"4","author":"Ioan DM","year":"1993","journal-title":"Genetic Counseling"},{"key":"e_1_2_1_4_1","series-title":"Birth Defects OAS","first-page":"149","volume-title":"An unusual familial spondyloepiphyseal dysplasia: Spondyloperipheral dysplasia","author":"Kelly TE","year":"1977"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01755.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.117"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:30:36Z","timestamp":1698373836000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,6]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,11,6]]}},"alternative-id":["10.1002\/ajmg.1320590204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11,6]]}}}