{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:55Z","timestamp":1792167235448,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,8,18]],"date-time":"2003-08-18T00:00:00Z","timestamp":1061164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Smith\u2010Lemli\u2010Opitz (SLO) syndrome or RSH syndrome is an autosomal recessive multiple malformation, and mental retardation syndrome ascribed to 7\u2010dehydrocholesterol reductase deficiency, and usually diagnosed in the early postnatal period. Reviewing a series of 30 cases of SLO, we have investigated the variable antenatal expression of the disorder. Intrauterine growth retardation (IUGR) was the most frequent detectable trait (20\/30). IUGR was either isolated (9\/20) or associated with at least one other anomaly (11\/20), including nuchal edema, renal, cardiac, cerebral malformations, genital anomalies, or polydactyly. In this last group, 3\/11 presented with multiple malformations (\u22653 anomalies). In 5\/30 cases, isolated nuchal edema (3\/30), and isolated cardiac (1\/30) or renal malformations (1\/30) were the only detectable anomalies. Ultrasound findings were considered normal in 5\/30 cases and were abnormal in 25\/30 cases (83%), but early detection of multiple malformations was rare (3\/30, 10%). We suggest giving consideration to a more systematic sterol analysis when dealing with IUGR, especially when associated anomalies are detected. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20448","type":"journal-article","created":{"date-parts":[[2004,1,16]],"date-time":"2004-01-16T09:00:32Z","timestamp":1074243632000},"page":"423-426","source":"Crossref","is-referenced-by-count":53,"title":["Antenatal manifestations of Smith\u2010Lemli\u2010Opitz (RSH) syndrome: A retrospective survey of 30 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