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Although CHARGE syndrome, Kabuki syndrome, and a recently delineated <jats:italic>KMT2D<\/jats:italic> Ex 38\/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed with CHARGE syndrome but subsequently found to have a de novo missense variant in exon 38 of <jats:italic>KMT2D<\/jats:italic>, the gene implicated in both Kabuki syndrome and a distinct <jats:italic>KMT2D<\/jats:italic> allelic disorder. We compare her brain and inner ear morphology to a retrospective cohort of 21 patients with classic Kabuki syndrome and to typical CHARGE syndrome findings described in the literature. Thirteen of the 21 Kabuki syndrome patients had temporal bone imaging (5\/13 CT, 12\/13 MRI) and\/or brain MRI (12\/13) which revealed findings distinct from both CHARGE syndrome and the <jats:italic>KMT2D<\/jats:italic> allelic disorder. Our findings further elucidate the spectrum of inner ear dysmorphology distinguishing Kabuki syndrome and the <jats:italic>KMT2D<\/jats:italic> allelic disorder from CHARGE syndrome, suggesting that these three disorders may be differentiated at least in part by their inner ear anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.a.62450","type":"journal-article","created":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T13:20:57Z","timestamp":1628515257000},"page":"3770-3783","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Neuroimaging in Kabuki syndrome and another <scp><i>KMT2D<\/i><\/scp>\u2010related disorder"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0128-153X","authenticated-orcid":false,"given":"Rachel T.","family":"Stadelmaier","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret A.","family":"Kenna","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology and Communication Enhancement Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon","family":"Barrett","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas E.","family":"Mullen","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7847-552X","authenticated-orcid":false,"given":"Olaf","family":"Bodamer","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline D.","family":"Robson","sequence":"additional","affiliation":[{"name":"Department of Radiology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8162-5031","authenticated-orcid":false,"given":"Monica H.","family":"Wojcik","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.1.76"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38010"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61518"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32610"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0743-3"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejrad.2019.108803"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-305858"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0536-6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00106-004-1071-7"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<87::AID-AJMG1>3.0.CO;2-G"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31591"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joto.2014.12.002"},{"issue":"8","key":"e_1_2_9_20_1","first-page":"1663","article-title":"Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings","volume":"27","author":"Morimoto A. 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