{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T04:19:42Z","timestamp":1697343582111},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,6,18]],"date-time":"2013-06-18T00:00:00Z","timestamp":1371513600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cleidocranial dysplasia (<jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content>) is a rare congenital defect of autosomal dominant inheritance, primarily affecting bones that undergo intra\u2010membranous ossification. Herein is reported the case of monozygotic male 13\u2010year\u2010old twins with typical features of this syndrome, such as large wide\u2010open fontanels, abnormal clavicles with narrow, sloping shoulders that can be apposed at the midline, short stature, mid\u2010face hypoplasia, multiple supernumerary teeth, and skeletal anomalies. Their physical appearance led to the diagnosis of <jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content>. Genetic analysis found a <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>\u2013<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> exchange in exon 2 at <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> position 568, which changes the codon <jats:styled-content style=\"fixed-case\">CGG<\/jats:styled-content> for arginine to <jats:styled-content style=\"fixed-case\">TGG<\/jats:styled-content> for tryptophan (<jats:styled-content style=\"fixed-case\">R190W<\/jats:styled-content>) of the runt\u2010related transcription factor 2 <jats:italic><jats:styled-content style=\"fixed-case\">RUNX2<\/jats:styled-content><\/jats:italic> gene. <jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content> should be suspected in patients with persistence of the widely open anterior fontanels and sutures, short stature, and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful because of the possibility of covert transmissibility and sporadic genetic mutation.<\/jats:p>","DOI":"10.1111\/ped.12043","type":"journal-article","created":{"date-parts":[[2013,6,19]],"date-time":"2013-06-19T03:25:44Z","timestamp":1371612344000},"page":"392-395","source":"Crossref","is-referenced-by-count":3,"title":["Clinical spectrum of cleidocranial dysplasia in a family with twins"],"prefix":"10.1111","volume":"55","author":[{"given":"Jiangping","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Child Health Care Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Can","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Radiology Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kewen","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,6,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10043"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10064"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33021"},{"key":"e_1_2_4_5_1","first-page":"117","article-title":"Cleidocranial dysplasia: Etiology and stomatognathic and craniofacial abnormalities","volume":"59","author":"D'Alessandro G","year":"2010","journal-title":"Minerva Stomatol."},{"key":"e_1_2_4_6_1","first-page":"177","article-title":"Cleidocranial dysplasia: Clinical and molecular genetics","volume":"36","author":"Mundlos S","year":"1999","journal-title":"J. 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