{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T19:05:30Z","timestamp":1780599930080,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6425,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 46,XY newborn infant with Smith\u2010Lemli\u2010Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth.<\/jats:p><jats:p>Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores.<\/jats:p><jats:p>The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.<\/jats:p>","DOI":"10.1002\/ajmg.1320280320","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:49:50Z","timestamp":1118537390000},"page":"723-731","source":"Crossref","is-referenced-by-count":76,"title":["Female external genitalia and m\u00fcllerian duct derivatives in a 46,XY infant with the Smith\u2010Lemli\u2010Opitz syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"Martin G.","family":"Bialer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor B.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Kahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Libes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Krigsman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin L.","family":"Lesser","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":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"129","article-title":"El sindrome de Smith\u2010Lemli\u2010Opitz: Descripci\u00f3n de 2 hermanos afectados, caracterizaci\u00f3n cl\u00ednica y mecanismo de transmisi\u00f3n hereditaria","volume":"25","author":"Armendares S","year":"1973","journal-title":"Rev Invest Clin"},{"key":"e_1_2_1_3_1","first-page":"5","article-title":"The Smith\u2010Lemli\u2010Opitz syndrome: Ten new observations","volume":"12","author":"Bene M","year":"1980","journal-title":"Acta Med Aux"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80094-X"},{"key":"e_1_2_1_5_1","first-page":"51","article-title":"Three sisters with the Smith\u2010Lemli\u2010Opitz syndrome","volume":"18","author":"Bundey S","year":"1974","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00345.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00695225"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.6.2.113"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80095-1"},{"key":"e_1_2_1_10_1","first-page":"805","article-title":"La sindrome di Smith\u2010Lemli\u2010Opitz: Descrizione di due casi e revisione della letteratura","volume":"30","author":"Gemme G","year":"1978","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02006.x"},{"key":"e_1_2_1_12_1","first-page":"175","article-title":"Smith\u2010Lceli\u2010Opitz syndrome without failure to thrive","volume":"30","author":"Jeanty PH","year":"1977","journal-title":"Acta Paediatr Belg"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443506"},{"key":"e_1_2_1_14_1","first-page":"37","article-title":"A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith\u2010Lemli\u2010Opitz","volume":"35","author":"Kenis H","year":"1967","journal-title":"Maandschr Kindergeeneeskd"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140304"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1981.03930020876013"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050205"},{"key":"e_1_2_1_18_1","volume-title":"The Clinical Delineation of Birth Defects. Part II: Malformation Syndromes","author":"Opitz JM","year":"1969"},{"issue":"2","key":"e_1_2_1_18_2","first-page":"43","journal-title":"BD:OAS"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80422-3"},{"key":"e_1_2_1_20_1","first-page":"176","article-title":"Gibt es ein Syndrom nach Ullrich und Feichtger?","volume":"187","author":"Pfeiffer RA","year":"1975","journal-title":"Klin Paediatr"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(65)80091-9"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80264-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.1320280320","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320280320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T18:09:57Z","timestamp":1697911797000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320280320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,11]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,11]]}},"alternative-id":["10.1002\/ajmg.1320280320"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320280320","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,11]]}}}