{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:10:10Z","timestamp":1745766610987,"version":"3.40.4"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Campomelic dysplasia (CD) is a rare clinical entity, usually fatal in the first year of life. It is characterised by bowing and angulations of long bones, along with other congenital anomalies. The occurrence of malignant hyperthermia is rare, but it has been associated with skeletal dysplasias. The authors present the case of a boy, born at 40 weeks of gestational age, with multiple congenital anomalies and subsequently diagnosed with CD, who died at 16 months of age as a consequence of malignant hyperthermia.<\/jats:p>","DOI":"10.1136\/bcr.04.2011.4112","type":"journal-article","created":{"date-parts":[[2011,6,9]],"date-time":"2011-06-09T21:47:57Z","timestamp":1307656077000},"page":"bcr0420114112","source":"Crossref","is-referenced-by-count":0,"title":["Campomelic dysplasia and malignant hyperthermia"],"prefix":"10.1136","volume":"2011","author":[{"given":"Andreia","family":"Barros","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filomena","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Carmo","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2011,6,9]]},"reference":[{"doi-asserted-by":"publisher","key":"2025042707390664000_2011.jun09_1.bcr0420114112.1","DOI":"10.1038\/sj.jp.7211875"},{"doi-asserted-by":"crossref","unstructured":"Khoshhal K Letts RM . Orthopaedic manifestations of campomelic dysplasia. Clin Orthop Relat Res 2002:65\u00e2\u0080\u009374.","key":"2025042707390664000_2011.jun09_1.bcr0420114112.2","DOI":"10.1097\/00003086-200208000-00010"},{"unstructured":"Unger S Scherer G Superti-Furga A . Campomelic dysplasia. In: Pagon RA Bird TD Dolan CR Stephens K , eds. GeneReviews [posted 2008]. Seattle, WA: University of Washington 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1760\/ (accessed January 2011).","key":"2025042707390664000_2011.jun09_1.bcr0420114112.3"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.4","first-page":"664","article-title":"Campomelic dysplasia: a rare cause of congenital spinal deformity.","volume":"17","author":"Nader","year":"2009","journal-title":"J Clin Neurosci"},{"doi-asserted-by":"publisher","key":"2025042707390664000_2011.jun09_1.bcr0420114112.5","DOI":"10.1136\/jmg.39.8.597"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.6","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/uog.6359","article-title":"Prenatal sonographic diagnosis of skeletal dysplasias.","volume":"34","author":"Schramm","year":"2009","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","article-title":"Nosology and classification of genetic skeletal disorders: 2006 revision.","volume":"143","author":"Superti-Furga","year":"2007","journal-title":"Am J Med Genet"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.8","doi-asserted-by":"crossref","first-page":"266","DOI":"10.25100\/cm.v36i.4.387","article-title":"Displasia campom\u00c3\u00a9lica. Descripci\u00c3\u00b3n de un caso.","volume":"36","author":"Baltaxe","year":"2005","journal-title":"Colomb Med"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.9","doi-asserted-by":"crossref","first-page":"775","DOI":"10.3349\/ymj.2010.51.5.775","article-title":"De novo pericentric inversion of chromosome 9 in congenital anomaly.","volume":"51","author":"Seon-Yong","year":"2010","journal-title":"Yonsei Med"},{"doi-asserted-by":"publisher","key":"2025042707390664000_2011.jun09_1.bcr0420114112.10","DOI":"10.1111\/j.1460-9592.2009.03120.x"},{"unstructured":"Rosenberg H Sambuughin N Dirksen R. . Malignant hyperthermia susceptibility. In: Pagon RA Bird TD Dolan CR Stephens K , eds. GeneReviews. Seattle, WA: University of Washington 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1146\/ (accessed January 2011).","key":"2025042707390664000_2011.jun09_1.bcr0420114112.11"},{"doi-asserted-by":"publisher","key":"2025042707390664000_2011.jun09_1.bcr0420114112.12","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M"},{"key":"2025042707390664000_2011.jun09_1.bcr0420114112.13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.3346\/jkms.2011.26.1.143","article-title":"A case of campomelic dysplasia without sex reversal.","volume":"26","author":"Hyoung-Young","year":"2011","journal-title":"Korean Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.04.2011.4112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:39:14Z","timestamp":1745764754000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.04.2011.4112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,9]]},"references-count":13,"alternative-id":["10.1136\/bcr.04.2011.4112"],"URL":"https:\/\/doi.org\/10.1136\/bcr.04.2011.4112","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2011,6,9]]}}}