{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:09:57Z","timestamp":1758161397240,"version":"3.44.0"},"reference-count":26,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac and urological malformations are commonly present in patient with KS, as well as language deficits and immunological abnormalities. Here, we reported a case of a child with an atypical form of KS, associated with macrodontia, corpus callosum dysmorphism, focal epilepsy responsive to antiepileptic treatment, and a novel KMT2D gene missense variant, c.2413C\u2009&gt;\u2009T, never reported to date.<\/jats:p>","DOI":"10.1055\/s-0040-1701645","type":"journal-article","created":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T19:55:06Z","timestamp":1581969306000},"page":"049-052","source":"Crossref","is-referenced-by-count":2,"title":["Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome"],"prefix":"10.53391","volume":"10","author":[{"given":"Valentina","family":"Bruni","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Scozzafava","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, IRCCS, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Parisi","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Sestito","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Licia","family":"Pensabene","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, IRCCS, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1223-7358","authenticated-orcid":false,"given":"Daniela","family":"Concolino","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,2,17]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/ajmg.c.10020","article-title":"Kabuki make-up syndrome: a review","volume":"117C","author":"N Matsumoto","year":"2003","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1399-0004.2004.00348.x","article-title":"Kabuki syndrome: a review","volume":"67","author":"M P Adam","year":"2005","journal-title":"Clin Genet"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/S0022-3476(81)80256-9","article-title":"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation","volume":"99","author":"Y Kuroki","year":"1981","journal-title":"J Pediatr"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1016\/j.ejim.2019.08.003","article-title":"Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome","volume":"69","author":"S Cantoni","year":"2019","journal-title":"Eur J Intern Med"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.a.30722","article-title":"Immune abnormalities are a frequent manifestation of Kabuki syndrome","volume":"135","author":"J D Hoffman","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"04","key":"ref6","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 retardation, unusual facies, large and protruding ears, and postnatal growth deficiency","volume":"99","author":"N Niikawa","year":"1981","journal-title":"J 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