{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:38:41Z","timestamp":1740141521442,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T00:00:00Z","timestamp":1488499200000},"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":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Kabuki syndrome is a rare developmental disorder characterized by typical facial features, postnatal growth deficiency, mild to moderate intellectual disability, and minor skeletal anomalies. It is caused by mutations of the <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic> genes while recently <jats:italic>RAP1A<\/jats:italic> and <jats:italic>RAP1B<\/jats:italic> mutations have been shown to rarely contribute to the pathogenesis. We report two patients\u2019 presentation of Kabuki syndrome caused by different <jats:italic>KMT2D<\/jats:italic> mutations, both including an interrupted\/bipartite clavicle. The clinical diagnosis of Kabuki syndrome may be challenging, especially in younger patients and we suggest that the observation of a bipartite clavicle may be an additional diagnostic clue to prompt investigation for Kabuki syndrome. We also hypothesize that bipartite\/pseudofractured clavicles or other skeletal defects may be under\u2010recognized features of the clinical presentation of the chromatin remodeling disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38131","type":"journal-article","created":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T05:06:41Z","timestamp":1488517601000},"page":"1115-1118","source":"Crossref","is-referenced-by-count":3,"title":["Interrupted\/bipartite clavicle as a diagnostic clue in Kabuki syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3731-863X","authenticated-orcid":false,"given":"Maria","family":"Haanp\u00e4\u00e4","sequence":"first","affiliation":[{"name":"Manchester Center for Genomic Medicine Central Manchester University Hospitals NHS Foundation Trust UK Manchester Academic Health Sciences Center Manchester UK"},{"name":"Turku University Hospital Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Schlecht","sequence":"additional","affiliation":[{"name":"Manchester Center for Genomic Medicine Central Manchester University Hospitals NHS Foundation Trust UK Manchester Academic Health Sciences Center Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gauri","family":"Batra","sequence":"additional","affiliation":[{"name":"Department of Perinatal Histopathology Central Manchester University Hospitals NHS Foundation Trust Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[{"name":"Manchester Center for Genomic Medicine Central Manchester University Hospitals NHS Foundation Trust UK Manchester Academic Health Sciences Center Manchester UK"},{"name":"Faculty of Medical and Human Sciences Institute of Evolution, Systems and Genomics University of Manchester Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Douzgou","sequence":"additional","affiliation":[{"name":"Manchester Center for Genomic Medicine Central Manchester University Hospitals NHS Foundation Trust UK Manchester Academic Health Sciences Center Manchester UK"},{"name":"Faculty of Medical and Human Sciences Institute of Evolution, Systems and Genomics University of Manchester Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,3]]},"reference":[{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Adam M. 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