{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T06:25:45Z","timestamp":1790922345018,"version":"4.1.0"},"reference-count":37,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0501_s_999_w2aab3b7c60b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the <jats:italic>DHCR7<\/jats:italic> gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0501_s_998_w2aab3b7c60b1b6b1aab1c16b2Aa\">\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0501_s_997_w2aab3b7c60b1b6b1aab1c16b3Aa\">\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Seven patients had branchial arch abnormalities, including micrognathia, immune dysfunction and hypocalcemia. Thymic abnormalities were found in three fetuses. All four patients with a cholesterol level of \u22640.35 mmol\/L died. They all had electrolyte abnormalities (hyperkalemia, hyponatremia, hypocalcemia), necrotizing enterocolitis, sepsis-like episodes and midline defects including the branchial and cardiac defects. Patients with cholesterol levels \u22651.7 mmol\/L had milder features and were diagnosed at 9 months to 25 years of age. All 10 patients had intellectual disability. One patient was found to have a novel mutation, c.1220A&gt;G (p.Asn407Ser).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0501_s_996_w2aab3b7c60b1b6b1aab1c16b4Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>We suggest that screening for adrenal insufficiency and for hypoparathyroidism, hypothyroidism and immunodeficiency, should be done routinely in infants diagnosed early with SLOS. Early diagnosis and intervention to correct these biochemical consequences may decrease mortality and improve long-term outcome in these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0501","type":"journal-article","created":{"date-parts":[[2018,2,27]],"date-time":"2018-02-27T10:45:40Z","timestamp":1519728340000},"page":"451-459","source":"Crossref","is-referenced-by-count":36,"title":["Smith-Lemli-Opitz syndrome: clinical and biochemical correlates"],"prefix":"10.1515","volume":"31","author":[{"given":"Sarah E.","family":"Donoghue","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine , Royal Children\u2019s Hospital , Melbourne , Australia"},{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Melbourne , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Melbourne , Australia"},{"name":"Department of Paedatrics , University of Melbourne , Melbourne , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avihu","family":"Boneh","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine , Royal Children\u2019s Hospital , Melbourne , Australia"},{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Melbourne , Australia"},{"name":"Department of Paedatrics , University of Melbourne , Melbourne , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Melbourne , Australia"},{"name":"Department of Paedatrics , University of Melbourne , Melbourne , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,2,19]]},"reference":[{"key":"2021021322311230110_j_jpem-2017-0501_ref_001_w2aab3b7c60b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Smith DW, Lemli L, Opitz JM. 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