{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T00:09:10Z","timestamp":1700179750098},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,6,17]],"date-time":"2005-06-17T00:00:00Z","timestamp":1118966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2005,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Trisomy 13 and Smith\u2010Lemli\u2010Opitz syndrome (SLOS) are both well\u2010recognized multiple congenital anomaly\/mental retardation syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>CASE<\/jats:title><jats:p>In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2\/3 toe syndactyly and a shawl\u2010like scrotum. Biochemical analysis was consistent with SLOS, and limited molecular analysis revealed 1 mutation in the <jats:italic>DHCR7<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>The challenges in establishing the diagnosis of SLOS in this patient are presented and the unique coexistence of the 2 major malformation syndromes is discussed. Given the overlapping phenotype of the 2 syndromes, our report should encourage further research on cholesterol biosynthesis in patients with trisomy 13. Birth Defects Research (Part A), 2005. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20165","type":"journal-article","created":{"date-parts":[[2005,6,17]],"date-time":"2005-06-17T20:47:33Z","timestamp":1119041253000},"page":"569-571","source":"Crossref","is-referenced-by-count":2,"title":["Smith\u2010Lemli\u2010Opitz syndrome in trisomy 13: How does the mix work?"],"prefix":"10.1002","volume":"73","author":[{"given":"Fowzan S.","family":"Alkuraya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Picker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mira B.","family":"Irons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,17]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"1463","article-title":"Smith\u2010Lemli\u2010Opitz syndrome; a special defect in cholesterol metabolism","volume":"140","author":"Aalfs CM","year":"1996","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<459::AID-AJMG5>3.0.CO;2-G"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(05)70054-3"},{"key":"e_1_2_4_5_1","first-page":"11","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner RJM","year":"1996"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8545(05)70028-0"},{"key":"e_1_2_4_7_1","first-page":"485","article-title":"Infantile spasms in monozygotic twins with Smith\u2010Lemli\u2010Opitz syndrome type I","volume":"24","author":"Itokazu N","year":"1992","journal-title":"No To Hattatsu"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1148\/92.1.44"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"e_1_2_4_10_1","first-page":"2547","article-title":"The abnormal fontanel","volume":"67","author":"Kiesler J","year":"2003","journal-title":"Am Fam Physician"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050205"},{"key":"e_1_2_4_12_1","first-page":"121","article-title":"Trisomy 13","volume":"19","author":"Moraine C","year":"1972","journal-title":"Ann Pediatr (Paris)"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jms.9.1.43"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.12.1833"},{"key":"e_1_2_4_15_1","first-page":"319","article-title":"Limb anomalies in chromosomal aberrations","volume":"13","author":"Pfeiffer RA","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.80"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560307"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.558"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20165","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:30:16Z","timestamp":1700166616000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,17]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["10.1002\/bdra.20165"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20165","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,17]]}}}