{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:23:57Z","timestamp":1789691037257,"version":"4.0.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1016\/j.ejmg.2011.12.002","type":"journal-article","created":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T14:31:17Z","timestamp":1324564277000},"page":"81-90","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Phenotypic spectrum of fetal Smith\u2013Lemli\u2013Opitz syndrome"],"prefix":"10.1016","volume":"55","author":[{"given":"Chlo\u00e9","family":"Qu\u00e9lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Loget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bazin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Bessi\u00e8res","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Laquerri\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Patrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romulus","family":"Grigorescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferecht\u00e9","family":"Encha-Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Delahaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Jouannic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Carbonne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"D\u2019Herv\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Aubry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Mac\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Harvey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Ville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraldine","family":"Viot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Joy\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Chevy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Benlian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2011.12.002_bib1","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1016\/0140-6736(93)90983-N","article-title":"Defective cholesterol biosynthesis in Smith\u2013Lemli\u2013Opitz syndrome","volume":"341","author":"Irons","year":"1993","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2011.12.002_bib2","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1194\/jlr.R009548","article-title":"Malformation syndromes caused by disorders of cholesterol synthesis","volume":"52","author":"Porter","year":"2011","journal-title":"J.\u00a0Lipid. Res."},{"key":"10.1016\/j.ejmg.2011.12.002_bib3","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1086\/301936","article-title":"Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith\u2013Lemli\u2013Opitz syndrome","volume":"63","author":"Wassif","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib4","doi-asserted-by":"crossref","first-page":"8181","DOI":"10.1073\/pnas.95.14.8181","article-title":"Mutations in the Delta7-sterol reductase gene in patients with the Smith\u2013Lemli\u2013Opitz syndrome","volume":"95","author":"Fitzky","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.ejmg.2011.12.002_bib5","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-010-9132-4","article-title":"Differences between predicted and established diagnoses of Smith\u2013Lemli\u2013Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?","author":"Jezela-Stanek","year":"2010","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2011.12.002_bib6","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ejhg.2008.10","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: pathogenesis, diagnosis and management","volume":"16","author":"Porter","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1111\/j.1399-0004.2005.00515.x","article-title":"Recent insights into the Smith\u2013Lemli\u2013Opitz syndrome","volume":"68","author":"Yu","year":"2005","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib8","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1002\/ajmg.a.31413","article-title":"DHCR7 mutation carrier rates and prevalence of the RSH\/Smith\u2013Lemli\u2013Opitz syndrome: where are the patients?","volume":"140","author":"Nowaczyk","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2011.12.002_bib9","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.37.5.321","article-title":"The Smith\u2013Lemli\u2013Opitz syndrome","volume":"37","author":"Kelley","year":"2000","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib10","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/S0929-693X(03)00214-8","article-title":"Clinical characteristics and diagnosis of Smith\u2013Lemli\u2013Opitz syndrome and tentative phenotype\u2013genotype correlation: report of 45 cases","volume":"10","author":"Goldenberg","year":"2003","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.ejmg.2011.12.002_bib11","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/ajmg.a.20448","article-title":"Antenatal manifestations of Smith\u2013Lemli\u2013Opitz (RSH) syndrome: a retrospective survey of 30 cases","volume":"124A","author":"Goldenberg","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2011.12.002_bib12","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/S0242-6498(05)80136-1","article-title":"Smith\u2013Lemli\u2013Opitz syndrome","volume":"25","author":"Pelluard-Nehme","year":"2005","journal-title":"Ann. Pathol."},{"key":"10.1016\/j.ejmg.2011.12.002_bib13","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.gyobfe.2008.01.014","article-title":"Utility of fetal ultrasonography in the prenatal diagnosis of Smith\u2013Lemli\u2013Opitz syndrome","volume":"36","author":"Dubuisson","year":"2008","journal-title":"Gynecol. Obstet. Fertil."},{"key":"10.1016\/j.ejmg.2011.12.002_bib14","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/pd.1735","article-title":"Prenatal diagnosis of Smith\u2013Lemli\u2013Opitz syndrome (SLOS) by DHCR7 mutation analysis","volume":"27","author":"Waye","year":"2007","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2011.12.002_bib15","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1399-0004.2006.00551.x","article-title":"Maternal urinary steroid profiles in prenatal diagnosis of Smith\u2013Lemli\u2013Opitz syndrome: first patient series comparing biochemical and molecular studies","volume":"69","author":"Jezela-Stanek","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib16","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1002\/ajmg.a.31901","article-title":"Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith\u2013Lemli\u2013Opitz syndrome (SLOS)","volume":"143A","author":"Shackleton","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2011.12.002_bib17","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<270::AID-AJMG5>3.0.CO;2-Q","article-title":"Cardiovascular malformations in Smith\u2013Lemli\u2013Opitz syndrome","volume":"68","author":"Lin","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib18","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/ajmg.c.30241","article-title":"Cyclopia (synophthalmia) in Smith\u2013Lemli\u2013Opitz syndrome: first reported case and consideration of mechanism","volume":"154C","author":"Weaver","year":"2010","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib19","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/BF02020219","article-title":"Smith\u2013Lemli\u2013Opitz syndrome type II: report of a case with additional radiographic findings","volume":"23","author":"Herman","year":"1993","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ejmg.2011.12.002_bib20","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/ajmg.1320320323","article-title":"Limb deficiency in an infant with Smith\u2013Lemli\u2013Opitz syndrome","volume":"32","author":"Singer","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib21","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ajmg.c.30249","article-title":"Neuropathology of holoprosencephaly","volume":"154C","author":"Marcorelles","year":"2010","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib22","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1097\/01.mcd.0000184972.76657.e1","article-title":"Genitourinary malformations as a feature of the Pallister-Hall syndrome","volume":"15","author":"McCann","year":"2006","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2011.12.002_bib23","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ng0397-266","article-title":"GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome","volume":"15","author":"Kang","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib24","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1002\/ajmg.1320280323","article-title":"Smith\u2013Lemli\u2013Opitz syndromes: do they include the Pallister-Hall syndrome?","volume":"28","author":"Donnai","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib25","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/ajmg.1320550410","article-title":"Numerical syndromology: a mathematical approach to the nosology of complex phenotypes","volume":"55","author":"Verloes","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib26","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.1320070110","article-title":"Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly \u2013 a new syndrome? Part I: clinical, causal, and pathogenetic considerations","volume":"7","author":"Hall","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib27","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1126\/science.274.5285.255","article-title":"Cholesterol modification of hedgehog signaling proteins in animal development","volume":"274","author":"Porter","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2011.12.002_bib28","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<105::AID-PD471>3.0.CO;2-W","article-title":"Smith\u2013Lemli\u2013Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops","volume":"19","author":"Maymon","year":"1999","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ejmg.2011.12.002_bib29","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1086\/302760","article-title":"Mutational spectrum in the Delta7-sterol reductase gene and genotype\u2013phenotype correlation in 84 patients with Smith\u2013Lemli\u2013Opitz syndrome","volume":"66","author":"Witsch-Baumgartner","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.12.002_bib30","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/jmg.2004.018085","article-title":"Maternal apo E genotype is a modifier of the Smith\u2013Lemli\u2013Opitz syndrome","volume":"41","author":"Witsch-Baumgartner","year":"2004","journal-title":"J.\u00a0Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211001315?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211001315?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:38:23Z","timestamp":1761709103000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721211001315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["S1769721211001315"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.12.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic spectrum of fetal Smith\u2013Lemli\u2013Opitz syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}