{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:27Z","timestamp":1756425807268,"version":"3.44.0"},"reference-count":8,"publisher":"SMC Media","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient.<\/jats:p>","DOI":"10.12890\/2021_002411","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T10:11:37Z","timestamp":1621937497000},"source":"Crossref","is-referenced-by-count":0,"title":["Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult"],"prefix":"10.12890","volume":"8","author":[{"given":"Melissa Elise","family":"van der Meijs","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dave Henri","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henk","family":"Boom","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2021,4,9]]},"reference":[{"key":"10.12890\/2021_002411_ref1","doi-asserted-by":"crossref","unstructured":"<li>Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, et al. International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. <em>J Pediatr<\/em> 2011;<strong>159<\/strong>(2):332\u2013339. <\/li>","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"10.12890\/2021_002411_ref2","doi-asserted-by":"crossref","unstructured":"<li>Kraus C, Vanicek T, Weidenauer A, Khanaqa T, Stamenkovic M, Lanzenberger R, et al. DiGeorge syndrome: relevance of psychiatric symptoms in undiagnosed adult patients. <em>Wien Klin Wochenschr<\/em> 2018;<strong>130<\/strong>(7\u20138):283\u2013287. <\/li>","DOI":"10.1007\/s00508-018-1335-y"},{"key":"10.12890\/2021_002411_ref3","doi-asserted-by":"crossref","unstructured":"<li>McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. <em>Nat Rev Dis Primers<\/em> 2015;<strong>1<\/strong>:15071. <\/li>","DOI":"10.1038\/nrdp.2015.71"},{"key":"10.12890\/2021_002411_ref4","doi-asserted-by":"crossref","unstructured":"<li>McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome). <em>Medicine<\/em> 2011;<strong>90<\/strong>(1):1\u201318. <\/li>","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"10.12890\/2021_002411_ref5","doi-asserted-by":"crossref","unstructured":"<li>Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: a review. <em>Am J Med Genet<\/em> 1999;<strong>86<\/strong>(4):359\u2013365. <\/li>","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V"},{"key":"10.12890\/2021_002411_ref6","doi-asserted-by":"crossref","unstructured":"<li>Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, et al. Role of TBX1 in human del 22q11.2 syndrome. <em>Lancet<\/em> 2003;<strong>362<\/strong>(9393):1366\u20131373. <\/li>","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"10.12890\/2021_002411_ref7","doi-asserted-by":"crossref","unstructured":"<li>Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. <em>Genet Med<\/em> 2001;<strong>3<\/strong>(1):19\u201322. <\/li>","DOI":"10.1097\/00125817-200101000-00005"},{"key":"10.12890\/2021_002411_ref8","doi-asserted-by":"crossref","unstructured":"<li>Matarazzo P, Tuli G, Fiore L, Mussa A, Feyles F, Peiretti V, et al. Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism. <em>J Pediatr Endocrinol Metab<\/em> 2014;<strong>27<\/strong>(1\u20132):53\u201359. <\/li>","DOI":"10.1515\/jpem-2013-0159"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2411\/2636","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2411\/2637","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2411\/2637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:27:02Z","timestamp":1756369622000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/2411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,9]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.12890\/2021_002411","relation":{"has-manifestation":[{"id-type":"other","id":"1-70-2411-g2636","asserted-by":"subject"},{"id-type":"other","id":"1-70-2411-g2637","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-70","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2021,4,9]]},"article-number":"18"}}