{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T05:10:01Z","timestamp":1698469801603},"reference-count":4,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3497,"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 report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). This is a rare, autosomal recessive skeletal dysplasia with short limbs, severe scoliosis, high dorsal kyphoscoliosis, and joint hypermobility. Most described patients with SEMDJL are from the Afrikaans\u2010speaking communities of South Africa. Patients with SEMDJL have an oval face, prominent eyes, and blue sclerae. Our patient's height and weight were below the fifth centile. She had prominent eyes with blue sclerae, a narrow, high\u2010arched palate, pectus carinatum, severe scoliosis, and hyperextensibility and instability of most joint, with limited extension and supination of her elbows. A review of her roentgenograms showed severe scoliosis, poorly developed ischial, iliac, and pubic bones, a \u201cbat\u2010like\u201d appearance of the iliac bones, \u201cdysplastic\u201d acetabulum, minimal metaphyseal and epiphyseal abnormalities at the knees, deformation of the proximal femoral metaphyses, and generalized brachydactyly of the hands and feet. This disorder may be more common than previously thought, and the diagnosis should be considered in any child with a dwarfing considered in any child with a dwarfing condition and joint laxity. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590222","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"234-237","source":"Crossref","is-referenced-by-count":8,"title":["Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a guatemalan patient"],"prefix":"10.1002","volume":"59","author":[{"given":"Joyce M.","family":"Bradburn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan D.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.136"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00580591"},{"key":"e_1_2_1_4_1","first-page":"772","article-title":"Spondylo\u2010epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis: a potentially lethal dwarfing disorder","volume":"64","author":"Beighton P","year":"1983","journal-title":"S Afr Med J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01065.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:31:08Z","timestamp":1698373868000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,6]]},"references-count":4,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,11,6]]}},"alternative-id":["10.1002\/ajmg.1320590222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590222","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]]}}}