{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:51Z","timestamp":1760729691927},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left\u2010heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets.<\/jats:p><jats:p>Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so\u2010called Smith\u2010Lemli\u2010Opitz (RSH) Syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320140304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:47Z","timestamp":1118504087000},"page":"423-428","source":"Crossref","is-referenced-by-count":33,"title":["Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith\u2010Lemli\u2010Opitz (RSH) syndrome"],"prefix":"10.1002","volume":"14","author":[{"given":"H. G.","family":"Kohler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1399-0004.1976.tb01571.x","article-title":"Inheritance of hypoplastic left heart syndrome (HLHS): Further observations","volume":"8","author":"Brownell LG","year":"1976","journal-title":"Clin Genet"},{"key":"e_1_2_1_3_1","first-page":"496","volume-title":"Clinical Genetics: A Sourcebook for Physicians","author":"Gilbert EF","year":"1979"},{"key":"e_1_2_1_4_1","volume-title":"Urinary System and Others","author":"Holmes LB","year":"1974"},{"issue":"4","key":"e_1_2_1_4_2","first-page":"228","author":"The National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_5_1","first-page":"30","volume-title":"Perspective in Pediatric Pathology","author":"Landing BH","year":"1973"},{"key":"e_1_2_1_6_1","first-page":"393","article-title":"Eine Beobachtung von Chondrodysplasia triodermica (Ellis\u2010van Creveld syndrom)","volume":"102","author":"Meitner ER","year":"1961","journal-title":"Zentralbl Allg Pathol"},{"key":"e_1_2_1_7_1","first-page":"99","article-title":"Beschreibung zweir durch sehr aehnliche Bildungsabweichungen entsteller Geschwister","volume":"7","author":"Meckel JF","year":"1822","journal-title":"D Arch Physiol"},{"key":"e_1_2_1_8_1","first-page":"167","article-title":"The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). In Congential Malformation Syndromes","volume":"2","author":"Opitz J","year":"1969","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1971.tb00249.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320140304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320140304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T15:19:37Z","timestamp":1706282377000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320140304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1983,3]]}},"alternative-id":["10.1002\/ajmg.1320140304"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320140304","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,3]]}}}