{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:54:26Z","timestamp":1787165666061,"version":"build-2736575974"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6727,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low\u2010set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular seplal defect, a right\u2010sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X\u2010linked recessive and may overlap with the Smith\u2010Lemli\u2010Opitz syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320260111","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T22:45:18Z","timestamp":1118529918000},"page":"59-64","source":"Crossref","is-referenced-by-count":46,"title":["The Gardner\u2010Silengo\u2010Wachtel or genito\u2010palato\u2010cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect"],"prefix":"10.1002","volume":"26","author":[{"given":"Frank","family":"Greenberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary V.","family":"Gresik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel W.","family":"Law","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn P.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190223"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.4.291"},{"key":"e_1_2_1_4_1","volume-title":"The Genetics of Cardiovascular Disease","author":"Clark EB"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","unstructured":"CurryCJR CareyJ GolabiM ShermanS Pagon(1987):Smith\u2010Lemli\u2010Opitz Syndrome type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 26:45\u201357.","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)91441-8"},{"key":"e_1_2_1_7_1","first-page":"119","article-title":"H\u2010Y Antigen in human X\u2010autosome translocations","volume":"7","author":"Mayerova A","year":"1983","journal-title":"Acta Anthropogenet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00281008","article-title":"A 46,XY infant with uterus, dysgenetic gonads, and multiple anomalies","volume":"25","author":"Silengo M","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_9_1","first-page":"224","volume-title":"H\u2010Y Antigen and the Biology of Sex Determination","author":"Wachtel SS","year":"1983"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290211"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260111","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:20:22Z","timestamp":1695806422000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,1]]}},"alternative-id":["10.1002\/ajmg.1320260111"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260111","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,1]]}}}