{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:04:25Z","timestamp":1791295465962,"version":"4.1.0"},"reference-count":18,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2006,2,3]],"date-time":"2006-02-03T00:00:00Z","timestamp":1138924800000},"content-version":"unspecified","delay-in-days":33,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:p>We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Fallot, coarctation of the aorta, ventricular septal defect, and patency of the arterial duct. Characteristic dysmorphic findings were noted in all patients, as well as a strong predisposition to severe problems with feeding in the neonatal period, and developmental delay. Cardiologists should be alert to this syndrome in children who present with the aforementioned constellation of findings, as patients with mild expression of Kabuki syndrome may go unrecognized for a considerable time.<\/jats:p>","DOI":"10.1017\/s1047951105002052","type":"journal-article","created":{"date-parts":[[2006,2,3]],"date-time":"2006-02-03T06:18:05Z","timestamp":1138947485000},"page":"30-33","source":"Crossref","is-referenced-by-count":17,"title":["The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome"],"prefix":"10.1017","volume":"16","author":[{"given":"Colin J.","family":"McMahon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Reardon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2006,2,3]]},"reference":[{"key":"S1047951105002052_ref003","doi-asserted-by":"crossref","unstructured":"Ohdo S , Madokoro H , Sonoda T , Nishiguchi T , Kawaguchi K , Hayaka K . Kabuki make-up syndrome (Niikawa-Kuroki) syndrome associated with congenital heart disease. J Med Genet 1985; 22: 126\u2013127.","DOI":"10.1136\/jmg.22.2.126"},{"key":"S1047951105002052_ref014","doi-asserted-by":"crossref","unstructured":"Powell HW , Hart PE , Sisodiya SM . Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol 2003; 45: 841\u2013843.","DOI":"10.1017\/S0012162203001567"},{"key":"S1047951105002052_ref013","doi-asserted-by":"crossref","unstructured":"Tsukuhara M , Kuroki Y , Imizumi K , Miyazawa Y , Matsuo K . Dominant inheritance of Kabuki-make up syndrome. Am J Med Genet 1997; 73: 19\u201323.","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<19::AID-AJMG5>3.0.CO;2-K"},{"key":"S1047951105002052_ref007","doi-asserted-by":"crossref","unstructured":"Schrander-Stumpel CT , Spruyt L , Curfs LM , Defloor T , Schrander JJ . Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 2005; 132: 234\u2013243.","DOI":"10.1002\/ajmg.a.30331"},{"key":"S1047951105002052_ref002","doi-asserted-by":"crossref","unstructured":"Kuroki Y , Suzuki Y , Chyo H , Hata A , Matsui I . A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570\u2013573.","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"S1047951105002052_ref008","doi-asserted-by":"crossref","unstructured":"Armstrong L , Abd El Moneim A , Aleck K , et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005; 132: 265\u2013272.","DOI":"10.1002\/ajmg.a.30340"},{"key":"S1047951105002052_ref004","doi-asserted-by":"crossref","unstructured":"Digilio MC , Marino B , Toscano A , Giannotti A , Dallapiccola B . Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269\u2013274.","DOI":"10.1002\/ajmg.1265"},{"key":"S1047951105002052_ref001","doi-asserted-by":"crossref","unstructured":"Niikawa N , Matsuura N , Fukushima Y , Ohsawa T , Kajii T . Kabuki-make up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981; 99: 565\u2013569.","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"S1047951105002052_ref012","doi-asserted-by":"crossref","unstructured":"McGinniss MJ , Brown DH , Burke LW , Mascarello JT , Jones MC . Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 1997; 70: 37\u201342.","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<37::AID-AJMG8>3.0.CO;2-O"},{"key":"S1047951105002052_ref005","doi-asserted-by":"crossref","unstructured":"Hughes HE , Davies SJ . Coarctation of the aorta in Kabuki syndrome. Archives Dis Child 1994; 70: 512\u2013514.","DOI":"10.1136\/adc.70.6.512"},{"key":"S1047951105002052_ref006","doi-asserted-by":"crossref","unstructured":"Kawame H , Hannibal MC , Hudgins L , Pagon RA . Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999; 134: 480\u2013485.","DOI":"10.1016\/S0022-3476(99)70207-6"},{"key":"S1047951105002052_ref015","doi-asserted-by":"crossref","unstructured":"Ogawa A , Yasumoto S , Tomoda Y , Ohfu M , Mitsudome A , Kuroki Y . Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003; 18: 549\u2013551.","DOI":"10.1177\/08830738030180080301"},{"key":"S1047951105002052_ref011","doi-asserted-by":"crossref","unstructured":"Turner C , Lachlan K , Amerasinghe N , et al. Kabuki syndrome: new ocular findings but no evidence of 8p22\u2013p23.1 duplications in a clinically defined cohort. 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Diabetes Res Clin Pract 2003; 60: 25\u201331.","DOI":"10.1016\/S0168-8227(02)00276-0"},{"key":"S1047951105002052_ref016","doi-asserted-by":"crossref","unstructured":"Nobili V , Marcellini M , Devito R , Capolino R , Viola L , Digilio MC . Hepatic fibrosis in Kabuki syndrome. Am J Med Genet 2004; 124: 209\u2013212.","DOI":"10.1002\/ajmg.a.20387"},{"key":"S1047951105002052_ref017","doi-asserted-by":"crossref","unstructured":"Scherer S , Theile U , Beyer V , Ferrari R , Kreck C , Rister M . Patient with Kabuli syndrome and acute leukemia. Am J Med Genet 2003; 122: 76\u201379.","DOI":"10.1002\/ajmg.a.20261"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951105002052","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T15:43:34Z","timestamp":1554738214000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951105002052\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["S1047951105002052"],"URL":"https:\/\/doi.org\/10.1017\/s1047951105002052","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}