{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T11:43:58Z","timestamp":1793187838965,"version":"4.5.0"},"reference-count":46,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the\n                      <jats:italic>KMT2D<\/jats:italic>\n                      and\n                      <jats:italic>KDM6A<\/jats:italic>\n                      genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the\n                      <jats:italic>KMT2D<\/jats:italic>\n                      and\n                      <jats:italic>KDM6A<\/jats:italic>\n                      genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738241291622","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T02:58:32Z","timestamp":1734404312000},"page":"208-217","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2557-9559","authenticated-orcid":false,"given":"Salvatore Michele","family":"Carnazzo","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University Hospital \u201cPoliclinico-San Marco of Catania, Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desir\u00e8e","family":"Balconara","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University Hospital \u201cPoliclinico-San Marco of Catania, Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Caruso","sequence":"additional","affiliation":[{"name":"Hygiene and Preventive Medicine Department of Biomedical Sciences, University of Catania, Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giusi Maria","family":"Caltabiano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University Hospital \u201cPoliclinico-San Marco of Catania, Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_3_2_6_2","unstructured":"Adam MP Hudgins L Hannibal M (1993-2021) In: Adam MP Ardinger HH Pagon RA et al (eds) (2011 Updated 2019) Kabuki Syndrome. 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Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association. Lymphology. 2010;43(4):188-199.","journal-title":"Lymphology"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1177\/1055665618765775"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.23517"},{"key":"e_1_3_2_21_2","article-title":"Kabuki make-up syndrome: a review","volume":"117","author":"Matsumoto N","year":"2003","unstructured":"Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. 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