{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:57:30Z","timestamp":1790416650335,"version":"4.1.0"},"reference-count":32,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,7]]},"abstract":"<jats:p>We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2\/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.<\/jats:p>","DOI":"10.1136\/jmg.35.7.558","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"558-565","source":"Crossref","is-referenced-by-count":194,"title":["Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype."],"prefix":"10.1136","volume":"35","author":[{"given":"A K","family":"Ryan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Bartlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Eaton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Mills","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,7,1]]},"reference":[{"key":"ref_1","first-page":"210","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith, D.W.; Lemli, L.; Opitz, J.M.","year":"1964","unstructured":"Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. _7 Pediatr 1964;64:210-17."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320050205","article-title":"Boderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome","volume":"5","author":"Lowry, R.B.; Yong, S.","year":"1980","unstructured":"Lowry RB, Yong S. Boderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am _7 Med Geniet 1980;5: 137-43.","journal-title":"Am _7 Med Geniet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<251::AID-AJMG1>3.0.CO;2-P","article-title":"A new face for an old syndrome","volume":"68","author":"Kelley, R.I.","year":"1997","unstructured":"Kelley RI. A new face for an old syndrome. 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Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-LemliOpitz syndrome homozygotes. ] Lipid Res 1995;36:1595601.","journal-title":"Lipid Res"},{"key":"ref_8","first-page":"478","article-title":"Holoprosencephaly in RSH\/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of sotnic hedgehog? An _7 Med","volume":"66","author":"Kelley, I.K.; Roessler, E.; Hennekam, C.M.","year":"1996","unstructured":"Kelley IK, Roessler E, Hennekam CM, et al. Holoprosencephaly in RSH\/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of sotnic hedgehog? 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AmJ7Med Genet 1995;56:265-8."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1320560306","article-title":"Prenatal diagnosis of Smith-Lemli-Opitz syndrome","volume":"56","author":"McGaughran, J.M.; Clayton, P.T.; Mills, K.A.; Moore, L.; Donnai, D.","year":"1995","unstructured":"McGaughran JM, Clayton PT, Mills KA, Moore L, Donnai D. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Geniet 1995;56:269-71.","journal-title":"Am J Med Geniet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1002\/ajmg.1320280320","article-title":"Female external genitalia and Mullerian duct derivatives in a 46, XY infant with the Smith-Lemli-Opitz syndrome","volume":"28","author":"Bialer, M.G.; Penchaszadeh, V.B.; Kahn, E.","year":"1987","unstructured":"Bialer MG, Penchaszadeh VB, Kahn E, et al. Female external genitalia and Mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Ami. 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Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am _7 Med Genet 1995;56: 286-7.","journal-title":"Am _7 Med Genet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/ajmg.1320490216","article-title":"Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II","volume":"49","author":"Johnson, J.A.; Aughton, D.J.; Comstock, C.H.","year":"1994","unstructured":"Johnson JA, Aughton DJ, Comstock CH, et al. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am] Med Genet 1994;49:240-3.","journal-title":"Am] Med Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1136\/jmg.27.7.465","article-title":"Smith-Lemli-Opitz syndrome II: a disorder of the fetal adrenals?","volume":"27","author":"McKeever, P.T.; Young, I.D.","year":"1990","unstructured":"McKeever PT, Young ID. Smith-Lemli-Opitz syndrome II: a disorder of the fetal adrenals? _7 Med Genet 1990;27:465-6.","journal-title":"_7 Med Genet"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<270::AID-AJMG5>3.0.CO;2-Q","article-title":"Cardiovascular malformations in Smith-Lemli-Opitz syndrome","volume":"68","author":"Lin, A.E.; Ardinger, H.H.; RH, Jr, Ardinger; Cunniff, C.; Kelley, R.I.","year":"1997","unstructured":"Lin AE, Ardinger HH, Ardinger RH Jr, Cunniff C, Kelley RI. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Ami.7 Med Genet 1997;68:270-8.","journal-title":"Ami.7 Med Genet"},{"key":"ref_29","first-page":"82","article-title":"Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome","volume":"127","author":"Tint, G.S.; Salen, G.; Batta, A.K.","year":"1995","unstructured":"Tint GS, Salen G, Batta AK, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. _7 Pediatr 1995;127:82-7."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<328::AID-AJMG15>3.0.CO;2-V","article-title":"Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz sydrome","volume":"68","author":"Dehart, D.B.; Lanoue, L.; Tint, G.S.; Sulik, K.K.","year":"1997","unstructured":"Dehart DB, Lanoue L, Tint GS, Sulik KK. Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz sydrome. Ami. Med Genet 1997;68:328-37.","journal-title":"Ami. 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Cholesterol and bile acid replacement therapy in children and adults with SmithLemli-Opitz (SLO\/RSH) syndrome. Am. Med Genet 1997;68:315-21.","journal-title":"Am. 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