{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T20:16:51Z","timestamp":1789157811821,"version":"build-2803163510"},"reference-count":22,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T00:00:00Z","timestamp":1519603200000},"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":[[2018,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>A PubMed search using \u201ccleidocranial dysplasia syndrome (CCD)\u201d or \u201c6p microdeletion\u201d was performed. Articles with information relevant to our case were obtained for review. A new case of cleidocranial dysplasia syndrome is presented to describe and discuss clinical manifestations, pathogenesis, clinical progression of cleidocranial dysplasia syndrome, and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>There were 22 articles with reports of cleidocranial dysplasia syndrome or 6p microdeletion. Cleidocranial dysplasia syndrome, a rare genetic disorder, documented to have an autosomal dominant inheritance pattern and caused by caused by mutations of the transcription factor RUNX2. RUNX2 has been mapped to chromosome 6p21. The anomalies in cleidocranial dysplasia syndrome can involve not only the clavicle and skull but the entire skeleton because the membranous as well as endochondral bone formation may be affected. Upon follow-up, our patient was found to have global developmental delay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We report a near-term neonate with characteristic features of cleidocranial dysplasia and a 6p21.1-p12.3 microdeletion. Cleidocranial dysplasia syndrome is a rare autosomal dominant skeletal dysplasia. The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/15-306","type":"journal-article","created":{"date-parts":[[2016,8,8]],"date-time":"2016-08-08T13:44:05Z","timestamp":1470663845000},"page":"891-894","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion"],"prefix":"10.1177","volume":"55","author":[{"given":"Surasak","family":"Puvabanditsin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"February","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Mayne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"McConnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeev","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,2,26]]},"reference":[{"key":"bibr1-15-306","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209490"},{"key":"bibr2-15-306","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1733908100"},{"key":"bibr3-15-306","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833593a1"},{"key":"bibr4-15-306","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200702-169OC"},{"key":"bibr5-15-306","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.121"},{"key":"bibr6-15-306","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-13213"},{"key":"bibr7-15-306","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20231"},{"key":"bibr8-15-306","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.174.2.983"},{"key":"bibr9-15-306","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1074>3.0.CO;2-C"},{"key":"bibr10-15-306","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.21.13313"},{"key":"bibr11-15-306","unstructured":"Gorlin R., Cohen M., Hennekam R. Syndrome of the Head and Neck. New York: Oxford University Press; 1990: 249\u2013253."},{"key":"bibr12-15-306","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2535880100"},{"key":"bibr13-15-306","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31061"},{"key":"bibr14-15-306","doi-asserted-by":"publisher","DOI":"10.1126\/science.2479986"},{"key":"bibr15-15-306","unstructured":"Mendoza-Londono R., Lee B. Cleidocranial dysplasia. In: Pagon R.A., Bird T.D., Dolan C.R., Stephens K., Adam M.P., eds. GeneReviews. 2009. Updated June 25, 2009. Seattle: University of Washington. Available at http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1513\/. Accessed February 1, 2013."},{"key":"bibr16-15-306","first-page":"177","volume":"36","author":"Mundlos S.","year":"1999","journal-title":"J Med Genet"},{"key":"bibr17-15-306","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.71"},{"key":"bibr18-15-306","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"bibr19-15-306","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-08-2975"},{"key":"bibr20-15-306","doi-asserted-by":"publisher","DOI":"10.4161\/cc.7.20.6922"},{"key":"bibr21-15-306","doi-asserted-by":"publisher","DOI":"10.3171\/ped.2006.104.4.290"},{"key":"bibr22-15-306","first-page":"900","volume":"6","author":"Wang S.","year":"2013","journal-title":"Int J Clin Exp Med"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/15-306","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/15-306","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/15-306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:19:02Z","timestamp":1777393142000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/15-306"}},"subtitle":["A Case Report and Literature Review"],"short-title":[],"issued":{"date-parts":[[2018,2,26]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1597\/15-306"],"URL":"https:\/\/doi.org\/10.1597\/15-306","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,26]]}}}