{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T18:47:13Z","timestamp":1770490033136,"version":"3.49.0"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Gorlin\u2013Chaudhry\u2013Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been reclassified together with Fontaine syndrome as Fontaine progeroid syndrome (FPS), after a common genetic basis was found. It was previously thought that GCMS\/FPS was not associated with aortopathy, but in recent years 3 patients with aortic disease have been described. We describe the fourth case, who is the oldest patient with GCMS\/FPS reported in the medical literature: a 45-year-old patient who presented with acute aortic dissection. We therefore recommend screening patients previously diagnosed with GCMS\/FPS for aortic pathology to aid early detection and avoid patient presentation in an acute setting.<\/jats:p>","DOI":"10.1093\/ejcts\/ezaa108","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T20:21:57Z","timestamp":1583958117000},"page":"654-655","source":"Crossref","is-referenced-by-count":4,"title":["Is Gorlin\u2013Chaudhry\u2013Moss syndrome associated with aortopathy?"],"prefix":"10.1093","volume":"58","author":[{"given":"Juno","family":"Legu\u00e9","sequence":"first","affiliation":[{"name":"Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jules H M","family":"Fran\u00e7ois","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla S P","family":"van Rijswijk","sequence":"additional","affiliation":[{"name":"Department of Radiology, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6933-1797","authenticated-orcid":false,"given":"Thomas J","family":"van Brakel","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,5,1]]},"reference":[{"key":"2021013016551904600_ezaa108-B1","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/S0022-3476(60)80315-0","article-title":"Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?","volume":"56","author":"Gorlin","year":"1960","journal-title":"J. Pediatr"},{"key":"2021013016551904600_ezaa108-B2","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.ajhg.2017.09.016","article-title":"De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction","volume":"101","author":"Ehmke","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2021013016551904600_ezaa108-B3","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.ajhg.2017.09.017","article-title":"De novo mutations in SLC25A24 cause a disorder characterized by early ageing, bone dysplasia, characteristic face, and early demise","volume":"101","author":"Writzl","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2021013016551904600_ezaa108-B4","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1002\/ajmg.a.40496","article-title":"A rare male patient with Fontaine progeroid syndrome caused by p. R217H de novo mutation in SLC25A24","volume":"176","author":"Rodr\u00edguez-Garc\u00eda","year":"2018","journal-title":"Am J Med Genet"},{"key":"2021013016551904600_ezaa108-B5","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/ajmg.1320440428","article-title":"Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: con\ufb01rmation of the Gorlin\u2013Chaudhry\u2013Moss syndrome","volume":"44","author":"Ippel","year":"1994","journal-title":"Am J Med Genet"}],"container-title":["European Journal of Cardio-Thoracic Surgery"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ejcts\/article-pdf\/58\/3\/654\/36155585\/ezaa108.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/ejcts\/article-pdf\/58\/3\/654\/36155585\/ezaa108.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T16:56:30Z","timestamp":1612025790000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejcts\/article\/58\/3\/654\/5827589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,1]]},"references-count":5,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,5,1]]},"published-print":{"date-parts":[[2020,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ejcts\/ezaa108","relation":{},"ISSN":["1010-7940","1873-734X"],"issn-type":[{"value":"1010-7940","type":"print"},{"value":"1873-734X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,9]]},"published":{"date-parts":[[2020,5,1]]}}}