{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:30:26Z","timestamp":1778304626682,"version":"3.51.4"},"reference-count":56,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2003,5,1]],"date-time":"2003-05-01T00:00:00Z","timestamp":1051747200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2003,5]]},"abstract":"<jats:p> We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RM-CAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd\u20133rd toes and left 5th\u20136th toes, right talipes varus and left talipes valgus, and fused L5\u2013S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 \u00b1 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint. <\/jats:p>","DOI":"10.1007\/s10024-002-1116-4","type":"journal-article","created":{"date-parts":[[2003,12,2]],"date-time":"2003-12-02T21:39:20Z","timestamp":1070401160000},"page":"270-277","source":"Crossref","is-referenced-by-count":12,"title":["Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former"],"prefix":"10.1177","volume":"6","author":[{"given":"Dinesh","family":"Rakheja","sequence":"first","affiliation":[{"name":"Department of Pathology, Mail Code 9073, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Golder N.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism, Children's Medical Center and The University of Texas Southwestern Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly B.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Medical Center and The University of Texas Southwestern Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2003,5,1]]},"reference":[{"key":"bibr1-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80264-X"},{"key":"bibr2-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90983-N"},{"key":"bibr3-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)39745-5"},{"key":"bibr4-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118223"},{"key":"bibr5-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1086\/301936"},{"key":"bibr6-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8181"},{"key":"bibr7-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R"},{"key":"bibr8-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9"},{"key":"bibr9-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010915)103:1<75::AID-AJMG1502>3.0.CO;2-R"},{"key":"bibr10-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260112"},{"key":"bibr11-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"bibr12-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190208"},{"key":"bibr13-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(85)90195-0"},{"key":"bibr14-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198606193142504"},{"key":"bibr15-s10024-002-1116-4","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1542\/peds.91.5.915","volume":"91","author":"Hoffmann GF","year":"1993","journal-title":"Pediatrics"},{"key":"bibr16-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005394315300"},{"key":"bibr17-s10024-002-1116-4","first-page":"525","volume":"18","author":"Frenkel J","year":"2000","journal-title":"Clin Exp Rheumatol"},{"key":"bibr18-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)65020-9"},{"key":"bibr19-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S"},{"key":"bibr20-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1086\/323473"},{"key":"bibr21-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470226"},{"key":"bibr22-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290321"},{"key":"bibr23-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200012)20:12<1008::AID-PD954>3.0.CO;2-S"},{"key":"bibr24-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1038\/10357"},{"key":"bibr25-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1038\/10350"},{"key":"bibr26-s10024-002-1116-4","first-page":"65","volume":"53","author":"Happle R.","year":"1979","journal-title":"Review of literature and report of a case. Hum Genet"},{"key":"bibr27-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1951"},{"key":"bibr28-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01761.x"},{"key":"bibr29-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C"},{"key":"bibr30-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F"},{"key":"bibr31-s10024-002-1116-4","first-page":"27","volume":"134","author":"Happle R","year":"1980","journal-title":"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr"},{"key":"bibr32-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J"},{"key":"bibr33-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5"},{"key":"bibr34-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1086\/342668"},{"key":"bibr35-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10510"},{"key":"bibr36-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590601.x"},{"key":"bibr37-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N"},{"key":"bibr38-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.558"},{"key":"bibr39-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<419::AID-AJMG5>3.0.CO;2-G"},{"key":"bibr40-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280320"},{"key":"bibr41-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"bibr42-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.1.64"},{"key":"bibr43-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<376::AID-AJMG4>3.0.CO;2-B"},{"key":"bibr44-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.e31"},{"key":"bibr45-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1086\/302760"},{"key":"bibr46-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1385"},{"key":"bibr47-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1126\/science.274.5285.255"},{"key":"bibr48-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1038\/374363a0"},{"key":"bibr49-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1038\/384176a0"},{"key":"bibr50-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1038\/384129a0"},{"key":"bibr51-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5615"},{"key":"bibr52-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2760(98)00041-1"},{"key":"bibr53-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X"},{"key":"bibr54-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W"},{"key":"bibr55-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000828)93:5<360::AID-AJMG4>3.0.CO;2-P"},{"key":"bibr56-s10024-002-1116-4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<315::AID-AJMG13>3.0.CO;2-W"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-002-1116-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-002-1116-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T14:24:13Z","timestamp":1741616653000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1007\/s10024-002-1116-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5]]},"references-count":56,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,5]]}},"alternative-id":["10.1007\/s10024-002-1116-4"],"URL":"https:\/\/doi.org\/10.1007\/s10024-002-1116-4","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5]]}}}