{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:21:49Z","timestamp":1787764909575,"version":"build-2784847793"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Kabuki syndrome (KS) is a rare, multisystemic congenital disorder characterized by distinct craniofacial features, musculoskeletal abnormalities, and varying degrees of intellectual disability. While diagnosis is primarily clinical, the underlying molecular variability often leads to delayed identification. Given that orodental anomalies are among the earliest quantifiable markers of the syndrome, the dental professional occupies a critical position in the diagnostic pathway. This report describes a female patient presenting with pathognomonic craniofacial traits, including arched supraorbital ridges, a prominent nose, broad nasal bridge with a flattened tip, thick eyebrows and eyelashes, large low-set ears, and prominent lips with an elongated philtrum. Intraoral examination revealed significant dental manifestations, specifically an anterior open bite, retained primary teeth, and anomalies such as missing teeth and impacted teeth. These findings served as the primary clinical indicators that facilitated a multidisciplinary referral and subsequent genetic confirmation. The high prevalence of specific dental findings \u2013 estimated to affect over 70% of KS patients \u2013 underscores the pivotal role of the dentist in early recognition. By identifying these oral phenotypes during routine examinations, dental practitioners can bridge the diagnostic gap, ensuring timely genetic testing and the initiation of comprehensive, coordinated management.<\/jats:p>","DOI":"10.4103\/ccd.ccd_708_25","type":"journal-article","created":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T15:00:19Z","timestamp":1781535619000},"page":"152-154","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Kabuki Syndrome: Dental and Craniofacial Findings"],"prefix":"10.4103","volume":"17","author":[{"given":"Kavleen Kaur","family":"Sethi","sequence":"first","affiliation":[{"name":"Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhishek","family":"Sinha","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuj","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonalika","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,6,15]]},"reference":[{"key":"R1-20260803","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0022-3476(81)80255-7","article-title":"Kabuki make-up syndrome: A syndrome of mental 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Dysmorphol"},{"key":"R8-20260803","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1002\/ajmg.a.34074","article-title":"Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome","volume":"155A","author":"Hannibal","year":"2011","journal-title":"Am J Med Genet A"},{"key":"R9-20260803","first-page":"450","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome:new data on 13 patients, emphasizing pattern of malformations","volume":"3","author":"Lerone","year":"2001","journal-title":"Genet Med"}],"container-title":["Contemporary Clinical Dentistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ccd.ccd_708_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:50:14Z","timestamp":1787763014000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ccd.ccd_708_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/ccd.ccd_708_25","relation":{},"ISSN":["0976-237X","0976-2361"],"issn-type":[{"value":"0976-237X","type":"print"},{"value":"0976-2361","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"2025-12-01","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-25","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}