{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:16:51Z","timestamp":1777522611303,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and talipes equinovarus. We report two exceptional cases of GS where both patients were also diagnosed with congenital myopathy, and one developed malignant hyperthermia. These are the first two cases reported where patients were diagnosed with both GS and congenital myopathy or where GS is associated with malignant hyperthermia.<\/jats:p>","DOI":"10.1597\/13-075","type":"journal-article","created":{"date-parts":[[2014,5,30]],"date-time":"2014-05-30T12:37:32Z","timestamp":1401453452000},"page":"18-22","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Gordon Syndrome: Literature Review and a Report of Two Cases"],"prefix":"10.1177","volume":"52","author":[{"given":"Sarel J.P.","family":"Botha","sequence":"first","affiliation":[{"name":"Department of Maxillo-Facial and Oral Surgery, University of Pretoria, South Africa."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik P.","family":"Kloppers","sequence":"additional","affiliation":[{"name":"Department of Maxillo-Facial and Oral Surgery, University of Pretoria, South Africa."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt-W","family":"B\u00fctow","sequence":"additional","affiliation":[{"name":"Department of Maxillo-Facial and Oral Surgery, University of Pretoria, South Africa."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2015,1,1]]},"reference":[{"key":"bibr1-13-075","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<401::AID-AJMG6>3.0.CO;2-W"},{"key":"bibr2-13-075","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"bibr3-13-075","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200101000-00009"},{"key":"bibr4-13-075","first-page":"4","volume":"6","author":"Bijlsma J.B.","year":"1980","journal-title":"Syndrome Ident."},{"key":"bibr5-13-075","author":"Bocian M.","year":"1998","journal-title":"Distal arthrogryposis with cleft palate, restricted extraocular movements, ptosis, scoliosis, and short stature: a new syndrome, or classification buster?"},{"key":"bibr6-13-075","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00012"},{"key":"bibr7-13-075","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199701000-00007"},{"key":"bibr8-13-075","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.6.3.266"},{"key":"bibr9-13-075","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.149"},{"key":"bibr10-13-075","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"bibr11-13-075","first-page":"58A","volume":"24","author":"Higgins J.V.","year":"1972","journal-title":"Am J Hum Genet."},{"key":"bibr12-13-075","first-page":"300","volume":"43","author":"Ioan D.M.","year":"1993","journal-title":"Clin Genet."},{"key":"bibr13-13-075","volume-title":"Arthrogryposis: Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis.","author":"Kimber E.","year":"2009"},{"key":"bibr14-13-075","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060210"},{"key":"bibr15-13-075","first-page":"599","volume":"150","author":"Moldenhauer E.","year":"1964","journal-title":"Dermatol Wochenschr."},{"key":"bibr16-13-075","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80119-8"},{"key":"bibr17-13-075","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090208"},{"key":"bibr18-13-075","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02096.x"},{"key":"bibr19-13-075","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.5.405"},{"key":"bibr20-13-075","first-page":"13","volume":"17","author":"Sweet K.","year":"1998","journal-title":"Proc Greenwood Genet Center."}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/13-075","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/13-075","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/13-075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:18:12Z","timestamp":1777393092000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/13-075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1597\/13-075"],"URL":"https:\/\/doi.org\/10.1597\/13-075","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1]]}}}