{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T18:16:57Z","timestamp":1759342617473},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,3,19]],"date-time":"2003-03-19T00:00:00Z","timestamp":1048032000000},"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":[[2003,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A distinct syndrome was ascertained in a 3\u2010year\u2010old girl and her brother. The proband was the first child of first cousin parents. She was born after an uneventful pregnancy. At birth, multiple congenital anomalies were noted: ptosis of the left eyelid, hypertelorism, anteverted nares, large fontanel, long philtrum, ungueal hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. During another pregnancy of the mother, fetal ultrasonographic examination showed an hypertrophy of the right ventricle and atria, a dextroposition of the aorta, a bilateral renal pelvis dilatation, and a club foot. After termination of the pregnancy, necropsy showed facial anomalies, a small penis, a polysyndactyly, a ventricular septum defect, and a malformation of the ductal plate. Bonneau et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib1\">1983<\/jats:ext-link>: J Genet Hum 2:93\u2013105] described a family in which three sibs had a complex cardiac malformation, hexadactyly of the first toe, and syndactyly of the third and fourth fingers. Rajab [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib5\">1997<\/jats:ext-link>: Clin Dysmorphol 6:85\u201388] described two sibs with similar features in an Omani family. The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20114","type":"journal-article","created":{"date-parts":[[2003,5,12]],"date-time":"2003-05-12T11:31:56Z","timestamp":1052739116000},"page":"223-227","source":"Crossref","is-referenced-by-count":4,"title":["Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: An autosomal recessive syndrome diagnosed antenatally"],"prefix":"10.1002","volume":"119A","author":[{"given":"Claude","family":"Stoll","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Gasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,19]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"93","article-title":"Polysyndactylie avec cardiopathie complexe. A propos de trois cas dans une m\u00eame fratire","volume":"2","author":"Bonneau JC","year":"1983","journal-title":"J Genet Hum"},{"key":"e_1_2_4_3_1","first-page":"488","article-title":"La dilatation polykystique cong\u00e9nitale des voies biliaires intra\u2010h\u00e9patiques: Essai de classification","volume":"34","author":"Caroli J","year":"1958","journal-title":"Sem H\u00f4p Paris"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/S0025-6196(11)63624-0","article-title":"Ludwig Symposium on biliary disorders\u2014Part Y. Pathogenesis of ductal plate abnormalities","volume":"73","author":"Desmet VJ","year":"1998","journal-title":"Mayo Clin Proc"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.117003"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199701000-00015"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100240010104"}],"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.20114","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:43:34Z","timestamp":1697618614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,19]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,6]]}},"alternative-id":["10.1002\/ajmg.a.20114"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20114","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,19]]}}}