{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:59Z","timestamp":1753869719504,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:00:00Z","timestamp":1728864000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This paper presents a case of an extremely low birth weight infant (gestational age 29\u2009weeks) with KS1 caused by a variant in the <jats:italic>KMT2D<\/jats:italic> gene. The clinical, pathological, and differential diagnostic findings were comprehensively analyzed. A thorough literature review was also performed to enhance the understanding of KS, revealing its unique features and prognostic significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The infant was a male with a gestational age of 29\u2009weeks and a birth weight of 850\u2009g. He had intrauterine growth retardation, characterized by cleft palate, sacrococcygeal skin depressions, and recurrent metabolic acidosis. Whole\u2010exome sequencing revealed the c.4267C\u2009&gt;\u2009T (p.Arg1423Cys) variant in the <jats:italic>KMT2D<\/jats:italic> gene, which was absent in his parents. The patient was discharged after 67\u2009days of treatment, and he was followed up to 19\u2009months of corrected gestational age, with growth retardation and expression language delay. Ten previous studies on preterm infants were retrieved, with 10 preterm infants. They all had characteristic facial features, such as long blepharophimosis, sparse and lateral 1\/3 eyebrows, and large and prominent\/cupped ears. Other manifestations were extrauterine growth delay (7\/10), abnormal development of the cardiovascular system (7\/10), abnormal development of the nervous system (5\/10), and cleft palate (2\/10).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Kabuki syndrome is a rare hereditary disorder involving multiple organs and systems. Genetic assessment for preterm infants with congenital abnormalities is recommended.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70025","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T13:09:47Z","timestamp":1728911387000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Extremely Low Birth Weight Infant (Gestational Age of 29\u2009Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review"],"prefix":"10.1002","volume":"12","author":[{"given":"Qi","family":"Li","sequence":"first","affiliation":[{"name":"Neonatal Pediatrics Shandong University Second Hospital  Jinan Shandong China"},{"name":"Pediatric The Fourth Affiliated of Soochow University  Suzhou Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuzhu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Shandong University Second Hospital  Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Neonatal Pediatrics Shandong University Second Hospital  Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8877-6656","authenticated-orcid":false,"given":"Jiang","family":"Xue","sequence":"additional","affiliation":[{"name":"Neonatal Pediatrics Shandong University Second Hospital  Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,14]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105625"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.132688"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2001.14.2.215"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540\u20108175.2011.01651.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102013\u2010305858"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38417"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.06.056"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2010.12.033"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1597\/05\u2010174"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.01503"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.06.002"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010015\u20100171\u20104"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37956"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100623\u2010x"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3171\/2010.5.PEDS09286"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20277"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30332"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36072"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(81)80255\u20107"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199204000-00001"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010020\u201000902\u20108"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62921"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61387"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.766316"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01983409"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30331"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.187997"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000519963"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519\u2010019\u201000309\u20104"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100126\u20101"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342253"}],"container-title":["Molecular Genetics &amp; 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