{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:49:38Z","timestamp":1762472978593,"version":"build-2065373602"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T00:00:00Z","timestamp":1695340800000},"content-version":"vor","delay-in-days":264,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Dentistry"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>Kleefstra syndrome (KS) is a rare genetic disorder (prevalence &lt; 1\/1\u2009000\u2009000) characterised by autistic spectrum disorder (ASD), childhood hypotonia, and seizures. A typical facial appearance includes microcephaly, arched eyebrows, synophrism, hypertelorism, a short nose, midface hypoplasia, prognathism, and tongue protrusion. This case report presents a 19\u2010year\u2010old female with KS from a dentist\u2019s perspective. The patient demonstrates limited mouth opening with a slight deviation of the mandible on the left side. The mandibular prognathism and anterior open bite are visible. A generalised inflammatory gingival enlargement is most likely a response to local irritants like plaque and calculus but is enhanced by the patient\u2019s mouth breathing habit. Also, the tongue is unusually large\u2014macroglossia. Dental anomalies were diagnosed by digital panoramic radiograph, including dilaceration of the maxillary left second premolar and taurodontism. The patient was qualified to be treated under general anaesthesia with multiple extractions, restorations, hygienisation procedures, and tooth remineralisation. This individual should also be considered for orthodontic treatment and an eventual tongue reduction procedure. In the case of KS, multidisciplinary cooperation as well as frequent dental check\u2010ups with fluoride prophylaxis are recommended. Unfortunately, dental treatment is still not an integral part of taking care of disabled children and youth with rare diseases.<\/jats:p>","DOI":"10.1155\/2023\/2478465","type":"journal-article","created":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T12:35:08Z","timestamp":1695386108000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Kleefstra Syndrome\u2014Dental Manifestations and Needs: A Case Report with a Literature Review"],"prefix":"10.1155","volume":"2023","author":[{"given":"Victoria","family":"Karlak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakub","family":"Jankowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Kolasi\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5042-5985","authenticated-orcid":false,"given":"Kacper","family":"Nijakowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,22]]},"reference":[{"volume-title":"GeneReviews\u00ae","year":"2023","author":"Kleefstra T.","key":"e_1_2_10_1_2"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.3109\/00016356309011240"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01607.x"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23324"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-014-0074-7"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.268"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0231-2"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.770545"},{"key":"e_1_2_10_9_2","first-page":"650","article-title":"Kleefstra syndrome: the first case report from Iran","volume":"55","author":"Noruzinia M.","year":"2017","journal-title":"Acta Medica Iranica"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000494532"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38852"},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/4283267"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.20966\/chn.2019.57.452"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/pediatric14010019"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1159\/000335648"},{"key":"e_1_2_10_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30136"}],"container-title":["Case Reports in Dentistry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2023\/2478465.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2023\/2478465.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2023\/2478465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:46:22Z","timestamp":1762472782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2023\/2478465"}},"subtitle":[],"editor":[{"given":"Gianrico","family":"Spagnuolo","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1155\/2023\/2478465"],"URL":"https:\/\/doi.org\/10.1155\/2023\/2478465","archive":["Portico"],"relation":{},"ISSN":["2090-6447","2090-6455"],"issn-type":[{"type":"print","value":"2090-6447"},{"type":"electronic","value":"2090-6455"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"2023-08-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2478465"}}