{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T04:33:49Z","timestamp":1780461229787,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T00:00:00Z","timestamp":1472428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Kabuki syndrome (MIM 147920) is a well\u2010described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures with eversion of lateral third of the lower eyelid, resembling the \u201cKabuki make\u2010up\u201d theatre genre after which the syndrome is named. Kabuki syndrome is estimated to affect 1\/32,000 births, with 55\u201380% of patients showing nonsense or frameshift mutations in the <jats:italic>KMT2D<\/jats:italic> (<jats:italic>MLL2<\/jats:italic>) gene, which encodes a histone transferase located on chromosome 12q. Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in <jats:italic>KDM6A<\/jats:italic> (a component of the same transcriptional complex as <jats:italic>KMT2D<\/jats:italic>) with no mutations in <jats:italic>KMT2D<\/jats:italic>, or as those diagnosed with Kabuki syndrome and without alterations in either <jats:italic>KMT2D<\/jats:italic> or <jats:italic>KDM6A<\/jats:italic>. Diagnosis of the syndrome in newborns and infants is difficult, as the facial features are not as evident as in toddler\u2010 or childhood. There are no known \u201ctell\u2010tale\u201d signs of Kabuki syndrome prenatally, and there are no reports of common, specific findings in fetuses that might suggest the diagnosis. We present here two infants who presented with prenatal hydrops\/ascites, who were subsequently diagnosed with Kabuki syndrome. Although relatively non\u2010specific, we suggest that Kabuki syndrome be added to the list of genetic syndromes that are suspected in cases of prenatal hydrops, review the molecular etiology of Kabuki syndrome, and broaden the phenotype of this well\u2010described disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37956","type":"journal-article","created":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T10:46:50Z","timestamp":1472467610000},"page":"3333-3337","source":"Crossref","is-referenced-by-count":14,"title":["Kabuki syndrome as a cause of non\u2010immune fetal hydrops\/ascites"],"prefix":"10.1002","volume":"170","author":[{"given":"Ashleigh","family":"Long","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena S.","family":"Sinkovskaya","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Edmondson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia"},{"name":"Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,8,29]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Adam MP","year":"2011"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009278"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1007\/s00439-015-1535-8","article-title":"Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin\u2010Siris and Nicolaides\u2010Baraitser syndromes","volume":"134","author":"Bramswig NC","journal-title":"Hum Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-305858"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-010-9773-y"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70207-6"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36442"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-015-1895-z"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv180"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.115"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1627-5"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37956","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37956","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37956","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:39:55Z","timestamp":1696642795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,29]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37956"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37956","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,29]]}}}