{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T23:14:29Z","timestamp":1722467669668},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T00:00:00Z","timestamp":1439942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features. CCD is caused by mutations, deletions or duplications in <jats:italic>runt\u2010related transcription factor 2<\/jats:italic> (<jats:italic>RUNX2<\/jats:italic>), which encodes for a protein essential for osteoblast differentiation and chondrocyte maturation. We describe three familial cases of CCD, misdiagnosed as rickets over three generations. No mutations were detected on standard DNA sequencing of <jats:italic>RUNX2<\/jats:italic>, but a novel deletion was identified on quantitative polymerase chain reaction (qPCR) and multiple ligation\u2010dependent probe amplification (MLPA). The present cases indicate that CCD could be misdiagnosed as rickets, leading to inappropriate treatment, and confirm that mutations in <jats:italic>RUNX2<\/jats:italic> are not able to be identified on standard DNA sequencing in all CCD patients, but can be identified on qPCR and MLPA.<\/jats:p>","DOI":"10.1111\/ped.12692","type":"journal-article","created":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T12:26:26Z","timestamp":1439987186000},"page":"1003-1006","source":"Crossref","is-referenced-by-count":5,"title":["Familial cleidocranial dysplasia misdiagnosed as rickets over three generations"],"prefix":"10.1111","volume":"57","author":[{"given":"Roberto","family":"Franceschi","sequence":"first","affiliation":[{"name":"Pediatrics Unit S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelina","family":"Maines","sequence":"additional","affiliation":[{"name":"Pediatrics Unit S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Fedrizzi","sequence":"additional","affiliation":[{"name":"Pediatrics Unit S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rosaria","family":"Piemontese","sequence":"additional","affiliation":[{"name":"Department of Evolutive Age, Medical Genetics Unit IRCCS\u2010Ospedale Casa Sollievo della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"De Bonis","sequence":"additional","affiliation":[{"name":"Department of Evolutive Age, Medical Genetics Unit IRCCS\u2010Ospedale Casa Sollievo della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nivedita","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Radiology Unit S. Maria del Carmine  Rovereto Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bellizzi","sequence":"additional","affiliation":[{"name":"Pediatrics Unit S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annunziata","family":"Di Palma","sequence":"additional","affiliation":[{"name":"Pediatrics Unit S. Chiara General Hospital  Trento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,19]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"177","article-title":"Cleidocranial dysplasia: Clinical and molecular genetics","volume":"36","author":"Mundlos S","year":"1999","journal-title":"J. Med. 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