{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T02:20:34Z","timestamp":1772504434022,"version":"3.50.1"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,8,25]]},"abstract":"<jats:p>22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with an incidence of approximately 1\/2000\u20131\/4000 live births; it is thought to be mainly attributable to a de novo deletion. The clinical phenotype of this syndrome is highly variable. Certain craniofacial and oral features are common to most patients with 22q11.2DS, including a high prevalence of dental caries; abnormalities of tooth shape, eruption and number; and enamel defects such as hypomineralisation and hypoplasia. This report focuses on the dental features and management of an 8-year-old boy with 22q11.2DS. Dental treatments were carried out under general anaesthesia. In summary, facial dysmorphism and common dental manifestations are typically noticeable in patients with this syndrome. Therefore, dentists need to be aware of the dental features of this condition in order to refer them to the adequate specialists. Cooperation among and experience with different specialties are mandatory to improve quality of life for patients with 22q11.2DS.<\/jats:p>","DOI":"10.1136\/bcr-2018-225765","type":"journal-article","created":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T00:55:44Z","timestamp":1537318544000},"page":"bcr-2018-225765","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Dental management of a patient with 22q11.2 deletion syndrome (22q11.2DS)"],"prefix":"10.1136","volume":"2018","author":[{"given":"Mohammed Ali","family":"AlQarni","sequence":"first","affiliation":[{"name":"Dental Department, King Abdullah Medical City, Mecca, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel","family":"Alharbi","sequence":"additional","affiliation":[{"name":"Paediatric Dentistry Department, Al Noor Specialist Hospital, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Merdad","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,9,18]]},"reference":[{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61601-8"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.3","unstructured":"McDonald-McGinn DM , 2013. DM. 22q11.2 deletion syndrome. Gene reviews\u00ae: US national library of medicine. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.4","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.5","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.6","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.7","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1046\/j.0960-7439.2001.00317.x","article-title":"Oral manifestations in 22q11 deletion syndrome","volume":"12","author":"Klingberg","year":"2002","journal-title":"Int J Paediatr Dent"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.8","first-page":"327","article-title":"Velopharyngeal, speech and dental characteristics as diagnostic aids in 22q11.2 deletion syndrome","volume":"39","author":"Oberoi","year":"2011","journal-title":"J Calif Dent Assoc"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.9","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 Deletion Syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34051"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.12","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00006"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.13","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1177\/0022034517720630","article-title":"A comprehensive craniofacial study of 22q11.2 deletion syndrome","volume":"96","author":"Lewyllie","year":"2017","journal-title":"J Dent Res"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.14","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1365-263X.2011.01148.x","article-title":"Dental development and tooth agenesis in children with velocardiofacial syndrome","volume":"21","author":"Heli\u00f6vaara","year":"2011","journal-title":"Int J Paediatr Dent"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.15","doi-asserted-by":"publisher","DOI":"10.3109\/00016357.2011.629624"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.16","doi-asserted-by":"crossref","first-page":"e46","DOI":"10.1016\/j.tripleo.2008.04.019","article-title":"Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome","volume":"106","author":"da Silva Dalben","year":"2008","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.17","first-page":"159","article-title":"DiGeorge syndrome associated with solitary median maxillary central incisor","volume":"23","author":"Yang","year":"2005","journal-title":"Asian Pac J Allergy Immunol"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.18","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2000.103884"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.19","unstructured":"Italian ministry of health. National guidelines on oral health promotion and prevention of oral pathologies in childhood; 2013. http:\/\/www.salute.gov.it\/imgs\/C_17_pubblicazioni_2073_allegato.pdf"},{"key":"2025082703185456000_2018.sep18_1.bcr-2018-225765.20","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1111\/j.1460-9592.2005.01694.x","article-title":"Unexpected postoperative tachycardia in a patient with 22q11 deletion syndrome after multiple dental extractions","volume":"15","author":"Passariello","year":"2005","journal-title":"Paediatr Anaesth"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-225765","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:19:05Z","timestamp":1756289945000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-225765"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,18]]},"references-count":20,"alternative-id":["10.1136\/bcr-2018-225765"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-225765","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,18]]}}}