{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:27:50Z","timestamp":1757705270811},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"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":[[2003,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 6\u2010year\u2010old boy with congenital hip dislocation, developmental delay, short stature, macrocephaly, low set ears, short neck, and hyperlaxity of the wrists and fingers is described. Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and the carpal bones. These features are very close to the newly described entity: spondyloepimetaphyseal dysplasia and multiple dislocations. This patient brings to light the differential diagnosis and confirms the specificity of the radiological findings of this new entity. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20262","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T14:43:14Z","timestamp":1062772994000},"page":"252-256","source":"Crossref","is-referenced-by-count":9,"title":["Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature"],"prefix":"10.1002","volume":"122A","author":[{"given":"A.","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ghanem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01065.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00580591"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02014981"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012115"},{"key":"e_1_2_4_6_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_7_1","first-page":"267","article-title":"The SPONASTRIME dysplasia: Familial short\u2010limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation","volume":"38","author":"Fanconi CI","year":"1983","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.666"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.566"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02387640"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050157"},{"key":"e_1_2_4_13_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_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10927"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.889"},{"key":"e_1_2_4_16_1","first-page":"208","article-title":"Heterogeneity of SPONASTRIME dysplasia: Delineation of a variant form with severe mental retardation","volume":"4","author":"Verloes A","year":"1995","journal-title":"Clin Dysmorph"}],"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.20262","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:08:22Z","timestamp":1700165302000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,15]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,10,15]]}},"alternative-id":["10.1002\/ajmg.a.20262"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20262","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,15]]}}}