{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T11:17:29Z","timestamp":1700651849234},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,9,7]],"date-time":"2004-09-07T00:00:00Z","timestamp":1094515200000},"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":[[2004,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 2\u2010year\u2010old boy with overlapping manifestations of the Kabuki (Niikawa\u2013Kuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant skin folds at the back of the neck, ventricular septal defect, broad flat thumbs, bilateral single palmar creases, left talipes equinovarus, eventration of right hemidiaphragm, and bilateral inguinal hernia. However, as he grew older, his facial profile changed to that typical of Kabuki syndrome. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20599","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T08:16:32Z","timestamp":1095149792000},"page":"389-392","source":"Crossref","is-referenced-by-count":8,"title":["A case of Kabuki (Niikawa\u2010Kuroki) syndrome associated with manifestations resembling C\u2010trigonocephaly syndrome"],"prefix":"10.1002","volume":"130A","author":[{"given":"Grace","family":"David","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Hardwick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090209"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370407"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/74.2.206"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443223"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03599.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400413"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560202"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01378.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120480062016"},{"issue":"2","key":"e_1_2_5_14_1","first-page":"161","article-title":"The C syndrome of multiple congenital anomalies","volume":"5","author":"Opitz JM","year":"1969","journal-title":"Birth Defects: Orig Artic Ser"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.39"}],"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.20599","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20599","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T21:26:31Z","timestamp":1696973191000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20599"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,7]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["10.1002\/ajmg.a.20599"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20599","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,7]]}}}