{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:04:22Z","timestamp":1787731462369,"version":"build-2784847793"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T00:00:00Z","timestamp":1032307200000},"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 A"],"published-print":{"date-parts":[[2003,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 5\u2010year\u2010old boy and a 33\u2010year\u2010old woman with spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form (spondyloepimetaphyseal dysplasia with multiple dislocations) (MIM 6003546), and two 12\u2010year\u2010old girls with the disorder who were previously reported as examples of a variant of sponatrime dysplasia. Their clinical manifestations included midface hypoplasia, micromelic short stature, and generalized joint laxity that caused multiple joint problems, including thoracolumbar scoliosis, hip subluxation, progressive genu valgum with knee and patellar subluxation, elbow subluxation, and malalignment of the wrist. Laryngotracheomalacia was present in two individuals, and myopathy was noted in one. The radiological findings in the four individuals included mild platyspondyly most conspicuous in infancy, narrow interpediculate distances of the lumbar spine evident in infancy, retarded epiphyseal ossification that evolved to epiphyseal dysplasia and later to degenerative joint disease, metaphyseal irregularities and striations present in early childhood, and leptodactylic appearance (slender short tubular bones) of the hand. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10927","type":"journal-article","created":{"date-parts":[[2003,2,5]],"date-time":"2003-02-05T06:12:40Z","timestamp":1044425560000},"page":"147-153","source":"Crossref","is-referenced-by-count":16,"title":["Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients"],"prefix":"10.1002","volume":"117A","author":[{"given":"Gen","family":"Nishimura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Honma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Shiihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyo","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Mikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,9,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.136"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012115"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<33::AID-AJMG6>3.0.CO;2-U"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.566"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050157"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<288::AID-AJMG22>3.0.CO;2-A"},{"key":"e_1_2_4_10_1","unstructured":"SprangerJ RogerC StevensonR.2001.Two forms of SEMDJL. In: Proceedings of the 5th International Skeletal Dysplasia Meeting Oxford UK Final Programme and Book of Abstracts."}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10927","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10927","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:00:01Z","timestamp":1700154001000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10927"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,18]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,3]]}},"alternative-id":["10.1002\/ajmg.a.10927"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10927","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,18]]}}}