Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Alley, T. L., Gray, B. A., Lee, S.-H., Scherer, S. W., Tsui, L.-C., Tint, G. S., Williams, C. A., Zori, R., Wallace, M. R.Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am. J. Hum. Genet. 56: 1411-1416, 1995. Note: Erratum: Am. J. Hum. Genet. 57: 520-521, 1995. [PubMed: 7762564]
  2. Alley, T. L., Scherer, S. W., Huizenga, J. J., Tsui, L.-C., Wallace, M. R.Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)(q32.1;q13.2). Am. J. Med. Genet. 68: 279-281, 1997. [PubMed: 9024559]
  3. Anderson, A. J., Stephan, M. J., Walker, W. O., Kelley, R. I.Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. Am. J. Med. Genet. 78: 413-418, 1998. [PubMed: 9714006] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<413::aid-ajmg4>3.0.co;2-m]
  4. Andersson, H. C., Frentz, J., Martinez, J. E., Tuck-Muller, C. M., Belliziare, J.Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 82: 382-384, 1999. [PubMed: 10069708]
  5. Anstey, A. V., Taylor, C. R.Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. J. Am. Acad. Derm. 41: 121-123, 1999. [PubMed: 10411425] [Full Text: https://doi.org/10.1016/s0190-9622(99)70420-2\]
  6. Atchaneeyasakul, L.-O., Linck, L. M., Connor, W. E., Weleber, R. G., Steiner, R. D.Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 80: 501-505, 1998. [PubMed: 9880216] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19981228)80:5<501::aid-ajmg12>3.0.co;2-j]
  7. Azurdia, R. M., Anstey, A. V., Rhodes, L. E.Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. Brit. J. Derm. 144: 143-145, 2001. [PubMed: 11167696] [Full Text: https://doi.org/10.1046/j.1365-2133.2001.03964.x\]
  8. Battaile, K. P., Battaile, B. C., Merkens, L. S., Maslen, C. L., Steiner, R. D.Carrier frequency of the common mutation IVS8-1G-C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Molec. Genet. Metab. 72: 67-71, 2001. [PubMed: 11161831] [Full Text: https://doi.org/10.1006/mgme.2000.3103\]
  9. Belmont, J. W., Hawkins, E., Hejtmancik, J. F., Greenberg, F.Two cases of severe lethal Smith-Lemli-Opitz syndrome. (Letter) Am. J. Med. Genet. 26: 65-67, 1987. [PubMed: 3812579] [Full Text: https://doi.org/10.1002/ajmg.1320260112\]
  10. Berry, R., Wilson, H., Robinson, J., Sandlin, C., Tyson, W., Campbell, J., Porreco, R., Manchester, D.Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). Am. J. Med. Genet. 34: 358-365, 1989. [PubMed: 2596525] [Full Text: https://doi.org/10.1002/ajmg.1320340312\]
  11. Bialer, M. G., Penchaszadeh, V. B., Kahn, E., Libes, R., Krigsman, G., Lesser, M. L.Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 28: 723-731, 1987. [PubMed: 3322011] [Full Text: https://doi.org/10.1002/ajmg.1320280320\]
  12. Blair, H. R., Martin, J. K.A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. J. Pediat. 69: 457-459, 1966. [PubMed: 5946455] [Full Text: https://doi.org/10.1016/s0022-3476(66)80094-x\]
  13. Chasalow, F. I., Blethen, S. L., Taysi, K.Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids 46: 827-843, 1985. [PubMed: 3018967] [Full Text: https://doi.org/10.1016/0039-128x(85)90032-7\]
  14. Cherstvoy, E. D., Lazjuk, G. I., Nedzved, M. K., Usoev, S. S.The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin. Genet. 7: 382-387, 1975. [PubMed: 1149307] [Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb00345.x\]
  15. Cormier-Daire, V., Wolf, C., Munnich, A., Le Merrer, M., Nivelon, A., Bonneau, D., Journel, H., Fellmann, F., Chevy, F., Roux, C.Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes. Europ. J. Pediat. 155: 656-659, 1996. [PubMed: 8839719] [Full Text: https://doi.org/10.1007/BF01957147\]
  16. Cotlier, E., Rice, P.Cataracts in the Smith-Lemli-Opitz syndrome. Am. J. Ophthal. 72: 955-959, 1971. [PubMed: 4330375] [Full Text: https://doi.org/10.1016/0002-9394(71)91696-5\]
  17. Cowell, H. R.The genetics of foot disorders. Orthop. Rev. 7: 55-58, 1978.
  18. Cunniff, C., Kratz, L. E., Moser, A., Natowicz, M. R., Kelley, R. I.Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am. J. Med. Genet. 68: 263-269, 1997. [PubMed: 9024557]
  19. Curry, C. J. R., Carey, J. C., Holland, J. S., Chopra, D., Fineman, R., Golabi, M., Sherman, S., Pagon, R. A., Allanson, J., Shulman, S., Barr, M., McGravey, V., Dabiri, C., Schimke, N., Ives, E., Hall, B. D.Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am. J. Med. Genet. 26: 45-57, 1987. [PubMed: 3812577] [Full Text: https://doi.org/10.1002/ajmg.1320260110\]
  20. Dallaire, L., Fraser, F. C.The syndrome of retardation with urogenital and skeletal anomalies in siblings. J. Pediat. 69: 459-460, 1966. [PubMed: 5946456] [Full Text: https://doi.org/10.1016/s0022-3476(66)80095-1\]
  21. Dallaire, L., Mitchell, G., Giguere, R., Lefebvre, F., Melancon, S. B., Lambert, M.Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Prenatal Diag. 15: 855-858, 1995. [PubMed: 8559757] [Full Text: https://doi.org/10.1002/pd.1970150911\]
  22. Dallaire, L.Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. J. Med. Genet. 6: 113-120, 1969. [PubMed: 4389828] [Full Text: https://doi.org/10.1136/jmg.6.2.113\]
  23. de Die Smulders, C., Fryns, J. P.Smith-Lemli-Opitz syndrome: the changing phenotype with age. Genet. Counsel. 3: 77-82, 1990. [PubMed: 1642814]
  24. de Die Smulders, C., van de Meer, S., Spaapen, L., Fryns, J. P.Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. (Letter) Genet. Counsel. 7: 161-162, 1996. [PubMed: 8831138]
  25. Deaton, J. G., Mendoza, L. O.Smith-Lemli-Opitz syndrome in a 23-year-old man. Arch. Intern. Med. 132: 422-426, 1973. [PubMed: 4783024]
  26. Dehart, D. B., Lanoue, L., Tint, G. S., Sulik, K. K.Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 68: 328-337, 1997. [PubMed: 9024568] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<328::aid-ajmg15>3.0.co;2-v]
  27. Donnai, D., Young, I. D., Owen, W. G., Clark, S. A., Miller, P. F. W., Knox, W. F.The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J. Med. Genet. 23: 64-71, 1986. [PubMed: 3950937] [Full Text: https://doi.org/10.1136/jmg.23.1.64\]
  28. Elias, E. R., Irons, M. B., Hurley, A. D., Tint, G. S., Salen, G.Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am. J. Med. Genet. 68: 305-310, 1997. [PubMed: 9024564] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<305::aid-ajmg11>3.0.co;2-x]
  29. Fierro, M., Martinez, A. J., Harbison, J. W., Hay, S. H.Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. Dev. Med. Child Neurol. 19: 57-61, 1977. [PubMed: 844667] [Full Text: https://doi.org/10.1111/j.1469-8749.1977.tb08021.x\]
  30. Fitzky, B. U., Witsch-Baumgartner, M., Erdel, M., Lee, J. N., Paik, Y.-K., Glossmann, H., Utermann, G., Moebius, F. F.Mutations in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Nat. Acad. Sci. 95: 8181-8186, 1998. [PubMed: 9653161] [Full Text: https://doi.org/10.1073/pnas.95.14.8181\]
  31. Fried, K., Fraser, W. I.Smith-Lemli-Opitz syndrome in an adult. J. Ment. Defic. Res. 16: 30-34, 1972. [PubMed: 4153066] [Full Text: https://doi.org/10.1111/j.1365-2788.1972.tb01568.x\]
  32. Fukazawa, R., Nakahori, Y., Kogo, T., Kawakami, T., Akamatsu, H., Tanae, A., Hibi, I., Nagafuchi, S., Nakagome, Y., Hirayama, T.Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. Acta Paediat. 81: 570-572, 1992. [PubMed: 1392379] [Full Text: https://doi.org/10.1111/j.1651-2227.1992.tb12300.x\]
  33. Goldenberg, A., Wolf, C., Chevy, F., Benachi, A., Dumez, Y., Munnich, A., Cormier-Daire, V.Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am. J. Med. Genet. 124A: 423-426, 2004. [PubMed: 14735596] [Full Text: https://doi.org/10.1002/ajmg.a.20448\]
  34. Greene, C., Pitts, W., Rosenfeld, R., Luzzatti, L.Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. Clin. Genet. 25: 366-372, 1984. [PubMed: 6713715] [Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb02006.x\]
  35. Guzzetta, V., De Fabiani, E., Galli, G., Colombo, C., Corso, G., Lecora, M., Parenti, G., Strisciuglio, P., Andria, G., Italian SLOS Collaborative Group.Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Acta Paediat. 85: 937-942, 1996. [PubMed: 8863875] [Full Text: https://doi.org/10.1111/j.1651-2227.1996.tb14190.x\]
  36. Herman, G. E.Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum. Molec. Genet. 12(R1): R75-R88, 2003. [PubMed: 12668600] [Full Text: https://doi.org/10.1093/hmg/ddg072\]
  37. Hoefnagel, D., Wurster, D., Pomeroy, J., Benz, R.The Smith-Lemli-Opitz syndrome in an adult. J. Ment. Defic. Res. 13: 249-257, 1969. [PubMed: 5363344] [Full Text: https://doi.org/10.1111/j.1365-2788.1969.tb01089.x\]
  38. Honda, A., Batta, A. K., Salen, G., Tint, G. S., Chen, T. S., Shefer, S.Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. Am. J. Med. Genet. 68: 288-293, 1997. [PubMed: 9024561] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<288::aid-ajmg8>3.0.co;2-i]
  39. Honda, A., Tint, G. S., Salen, G., Kelley, R. I., Honda, M., Batta, A. K., Chen, T. S., Shefer, S.Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. Am. J. Med. Genet. 68: 282-287, 1997. [PubMed: 9024560]
  40. Honda, M., Tint, G. S., Honda, A., Salen, G., Shefer, S., Batta, A. K., Matsuzaki, Y., Tanaka, N.Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J. Inherit. Metab. Dis. 23: 464-474, 2000. [PubMed: 10947201] [Full Text: https://doi.org/10.1023/a:1005660130109\]
  41. Hyett, J. A., Clayton, P. T., Moscoso, G., Nicolaides, K. H.Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 58: 374-376, 1995. [PubMed: 8533850] [Full Text: https://doi.org/10.1002/ajmg.1320580415\]
  42. Irons, M. B., Tint, G. S.Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenatal Diag. 18: 369-372, 1998. [PubMed: 9602484]
  43. Irons, M., Elias, E. R., Abuelo, D., Bull, M. J., Greene, C. L., Johnson, V. P., Keppen, L., Schanen, C., Tint, G. S., Salen, G.Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am. J. Med. Genet. 68: 311-314, 1997. [PubMed: 9024565]
  44. Irons, M., Elias, E. R., Salen, G., Tint, G. S., Batta, A. K.Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. (Letter) Lancet 341: 1414 only, 1993. [PubMed: 7684480] [Full Text: https://doi.org/10.1016/0140-6736(93)90983-n\]
  45. Irons, M., Elias, E. R., Tint, G. S., Salen, G., Frieden, R., Buie, T. M., Ampola, M.Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am. J. Med. Genet. 50: 347-352, 1994. [PubMed: 8209913] [Full Text: https://doi.org/10.1002/ajmg.1320500409\]
  46. Jezela-Stanek, A., Malunowicz, E. M., Ciara, E., Popowska, E., Goryluk-Kozakiewicz, B., Spodar, K., Czerwiecka, M., Jezuita, J., Nowaczyk, M. J. M., Krajewska-Walasek, M.Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clin. Genet. 69: 77-85, 2006. [PubMed: 16451140] [Full Text: https://doi.org/10.1111/j.1399-0004.2006.00551.x\]
  47. Jiang, X.-S., Wassif, C. A., Backlund, P. S., Song, L., Holtzclaw, L. A., Li, Z., Yergey, A. L., Porter, F. D.Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum. Molec. Genet. 19: 1347-1357, 2010. [PubMed: 20067919] [Full Text: https://doi.org/10.1093/hmg/ddq011\]
  48. Johnson, J. A., Aughton, D. J., Comstock, C. H., von Oeyen, P. T., Higgins, J. V., Schulz, R.Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am. J. Med. Genet. 49: 240-243, 1994. [PubMed: 8116676] [Full Text: https://doi.org/10.1002/ajmg.1320490216\]
  49. Johnson, V. P.Smith-Lemli-Opitz syndrome: review and report of two affected siblings. Z. Kinderheilk. 119: 221-234, 1975. [PubMed: 166525] [Full Text: https://doi.org/10.1007/BF00443506\]
  50. Joseph, D. B., Uehling, D. T., Gilbert, E., Laxova, R.Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. J. Urol. 137: 719-721, 1987. [PubMed: 3560332] [Full Text: https://doi.org/10.1016/s0022-5347(17)44188-7\]
  51. Kalb, S., Caglayan, A. O., Degerliyurt, A., Schmid, S., Ceylaner, S., Hatipoglu, N., Hinderhofer, K., Rehder, H., Kurtoglu, S., Ceylaner, G., Zschocke, J., Witsch-Baumgartner, M.High frequency of p.thr93met in Smith-Lemli-Opitz syndrome patients in Turkey. (Letter) Clin. Genet. 81: 598-601, 2012. [PubMed: 22211794] [Full Text: https://doi.org/10.1111/j.1399-0004.2011.01750.x\]
  52. Kelley, R. I.A new face for an old syndrome. (Editorial) Am. J. Med. Genet. 68: 251-256, 1997. [PubMed: 9024554] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<251::aid-ajmg1>3.0.co;2-p]
  53. Kelley, R. I.RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. (Editorial) Am. J. Hum. Genet. 63: 322-326, 1998. [PubMed: 9683618] [Full Text: https://doi.org/10.1086/301987\]
  54. Kenis, H., Hustinx, T. W.A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz. Maandschr. Kindergeneesk. 35: 37-48, 1967. [PubMed: 6047019]
  55. Kohler, H. G.Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome. Am. J. Med. Genet. 14: 423-428, 1983. [PubMed: 6859093] [Full Text: https://doi.org/10.1002/ajmg.1320140304\]
  56. Koo, G., Conley, S. K., Wassif, C. A., Porter, F. D.Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 152A: 2094-2098, 2010. [PubMed: 20635399] [Full Text: https://doi.org/10.1002/ajmg.a.33540\]
  57. Kovarova, M., Wassif, C. A., Odom, S., Liao, K., Porter, F. D., Rivera, J.Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. J Exp. Med. 203: 1161-1171, 2006. [PubMed: 16618793] [Full Text: https://doi.org/10.1084/jem.20051701\]
  58. Kratz, L. E., Kelley, R. I.Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 82: 376-381, 1999. [PubMed: 10069707]
  59. Lachman, M. F., Wright, Y., Whiteman, D. A. H., Herson, V., Greenstein, R. M.Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. Clin. Genet. 39: 136-141, 1991. [PubMed: 1849804] [Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03000.x\]
  60. Langius, F. A. A., Waterham, H. R., Romeijn, G. J., Oostheim, W., de Barse, M. M. J., Dorland, L., Duran, M., Beemer, F. A., Wanders, R. J. A., Poll-The, B. T.Identification of 3 patients with a very mild form of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 122A: 24-29, 2003. [PubMed: 12949967] [Full Text: https://doi.org/10.1002/ajmg.a.20207\]
  61. Lazarin, G. A., Haque, I. S., Nazareth, S., Iori, K., Patterson, A. S., Jacobson, J. L., Marshall, J. R., Seltzer, W. K., Patrizio, P., Evans, E. A., Srinivasan, B. S.An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet. Med. 15: 178-186, 2013. [PubMed: 22975760] [Full Text: https://doi.org/10.1038/gim.2012.114\]
  62. Le Merrer, M., Briard, M. L., Girard, S., Mulliez, N., Moraine, C., Imbert, M. C.Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. J. Med. Genet. 25: 88-95, 1988. [PubMed: 2831368] [Full Text: https://doi.org/10.1136/jmg.25.2.88\]
  63. Linck, L. M., Lin, D. S., Flavell, D., Connor, W. E., Steiner, R. D.Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 93: 360-365, 2000. [PubMed: 10951458] [Full Text: https://doi.org/10.1002/1096-8628(20000828)93:5<360::aid-ajmg4>3.0.co;2-p]
  64. Lowry, R. B., Miller, J. R., MacLean, J. R.Micrognathia, polydactyly and cleft palate. J. Pediat. 72: 859-861, 1968. [PubMed: 5652614] [Full Text: https://doi.org/10.1016/s0022-3476(68)80441-x\]
  65. Lowry, R. B.Personal Communication. Calgary, Alberta, Canada 1982.
  66. Lowry, R. B.Variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. (Editorial) Am. J. Med. Genet. 14: 429-433, 1983. [PubMed: 6859094] [Full Text: https://doi.org/10.1002/ajmg.1320140305\]
  67. McGaughran, J., Donnai, D., Clayton, P., Mills, K.Diagnosis of Smith-Lemli-Opitz syndrome. (Letter) New Eng. J. Med. 330: 1685-1686, 1994. [PubMed: 8177281]
  68. McKeever, P. A., Young, I. D.Smith-Lemli-Opitz syndrome II: a disorder of the fetal adrenals? J. Med. Genet. 27: 465-466, 1990. [PubMed: 2395167] [Full Text: https://doi.org/10.1136/jmg.27.7.465\]
  69. Neklason, D. W., Andrews, K. M., Kelley, R. I., Metherall, J. E.Biochemical variants of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 85: 517-523, 1999. [PubMed: 10405455] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19990827)85:5<517::aid-ajmg18>3.0.co;2-1]
  70. Ness, G. C., Lopez, D., Borrego, O., Gilbert-Barness, E.Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. Am. J. Med. Genet. 68: 294-299, 1997. [PubMed: 9024562] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m]
  71. Nevo, S., Benderly, A., Levy, J., Katznelson, M. B.-M.Smith-Lemli-Opitz syndrome in an inbred family. Am. J. Dis. Child. 124: 431-433, 1972. [PubMed: 5056882] [Full Text: https://doi.org/10.1001/archpedi.1972.02110150129021\]
  72. Nowaczyk, M. J. M., Farrell, S. A., Sirkin, W. L., Velsher, L., Krakowiak, P. A., Waye, J. S., Porter, F. D.Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-C genotype. Am. J. Med. Genet. 103: 75-80, 2001. [PubMed: 11562938] [Full Text: https://doi.org/10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r]
  73. Nowaczyk, M. J. M., Heshka, T., Eng, B., Feigenbaum, A. J., Waye, J. S.DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 100: 162-163, 2001. [PubMed: 11298379] [Full Text: https://doi.org/10.1002/ajmg.1227\]
  74. Nowaczyk, M. J. M., McCaughey, D., Whelan, D. T., Porter, F. D.Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am. J. Med. Genet. 102: 18-20, 2001. Note: Erratum: Am. J. Med. Genet. 104: 184 only, 2001. [PubMed: 11471166] [Full Text: https://doi.org/10.1002/1096-8628(20010722)102:1<18::aid-ajmg1376>3.0.co;2-e]
  75. Nowaczyk, M. J. M., Siu, V. M., Krakowiak, P. A., Porter, F. D.Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 103: 223-225, 2001. [PubMed: 11745994] [Full Text: https://doi.org/10.1002/ajmg.1545.abs\]
  76. Nowaczyk, M. J. M., Whelan, D. T., Hill, R. E.Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. Am. J. Med. Genet. 78: 419-423, 1998. [PubMed: 9714007] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g]
  77. Nwokoro, N. A., Mulvihill, J. J.Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am. J. Med. Genet. 68: 315-321, 1997. [PubMed: 9024566] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<315::aid-ajmg13>3.0.co;2-w]
  78. Opitz, J. M., de la Cruz, F.Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. Am. J. Med. Genet. 50: 326-338, 1994. [PubMed: 7632194] [Full Text: https://doi.org/10.1002/ajmg.1320500406\]
  79. Opitz, J. M., Penchaszadeh, V. B., Holt, M. C., Spano, L. M., Smith, V. L.Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993. Am. J. Med. Genet. 50: 339-343, 1994. [PubMed: 8209911] [Full Text: https://doi.org/10.1002/ajmg.1320500407\]
  80. Opitz, J. M., Penchaszadeh, V. B., Holt, M. C., Spano, L. M.Smith-Lemli-Opitz (RSH) syndrome bibliography. Am. J. Med. Genet. 28: 745-750, 1987. [PubMed: 3322013] [Full Text: https://doi.org/10.1002/ajmg.1320280324\]
  81. Opitz, J. M.Personal Communication. Helena, Montana 2/24/1996.
  82. Patterson, K., Toomey, K. E., Chandra, R. S.Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J. Pediat. 103: 425-427, 1983. [PubMed: 6886911] [Full Text: https://doi.org/10.1016/s0022-3476(83)80422-3\]
  83. Pauli, R. M., Williams, M. S., Josephson, K. D., Tint, G. S.Smith-Lemli-Opitz syndrome: thirty-year follow-up of 'S' of 'RSH' syndrome. Am. J. Med. Genet. 68: 260-262, 1997. [PubMed: 9024556] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<260::aid-ajmg3>3.0.co;2-q]
  84. Pinsky, L., DiGeorge, A. M.A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: another cause of male pseudohermaphroditism. J. Pediat. 66: 1049-1054, 1965. [PubMed: 14288458] [Full Text: https://doi.org/10.1016/s0022-3476(65)80091-9\]
  85. Porter, J. A., Young, K. E., Beachy, P. A.Cholesterol modification of hedgehog signaling proteins in animal development. Science 274: 255-258, 1996. Note: Erratum: Science 274: 1597 only, 1996. [PubMed: 8824192] [Full Text: https://doi.org/10.1126/science.274.5285.255\]
  86. Roux, C., Horvath, C., Dupuis, R.Teratogenic action and embryo lethality of AY 9944R: prevention by a hypercholesterolemia-provoking diet. Teratology 19: 35-38, 1979. [PubMed: 88081] [Full Text: https://doi.org/10.1002/tera.1420190106\]
  87. Rutledge, J. C., Friedman, J. M., Harrod, M. J. E., Currarino, G., Wright, C. G., Pinckney, L., Chen, H.A 'new' lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am. J. Med. Genet. 19: 255-264, 1984. [PubMed: 6507477] [Full Text: https://doi.org/10.1002/ajmg.1320190208\]
  88. Ryan, A. K., Bartlett, K., Clayton, P., Eaton, S., Mills, L., Donnai, D., Winter, R. M., Burn, J.Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J. Med. Genet. 35: 558-565, 1998. [PubMed: 9678700] [Full Text: https://doi.org/10.1136/jmg.35.7.558\]
  89. Salen, G., Shefer, S., Batta, A. K., Tint, G. S., Xu, G., Honda, A., Irons, M., Elias, E. R.Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J. Lipid Res. 37: 1169-1180, 1996. [PubMed: 8808751]
  90. Scarbrough, P. R., Huddleston, K., Finley, S. C.An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. J. Med. Genet. 23: 174-175, 1986. [PubMed: 3712395] [Full Text: https://doi.org/10.1136/jmg.23.2.174\]
  91. Seller, M. J., Flinter, F. A., Docherty, Z., Fagg, N., Newbould, M.Phenotypic diversity in the Smith-Lemli-Opitz syndrome. Clin. Dysmorph. 6: 69-73, 1997. [PubMed: 9018421]
  92. Shackleton, C. H. L., Roitman, E., Kratz, L. E., Kelley, R. I.Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. J. Clin. Endocr. Metab. 84: 1157-1159, 1999. [PubMed: 10084612] [Full Text: https://doi.org/10.1210/jcem.84.3.5660\]
  93. Shefer, S., Salen, G., Batta, A. K., Honda, A., Tint, G. S., Irons, M., Elias, E. R., Chen, T. C., Holick, M. F.Markedly inhibited 7-dehydrocholesterol-delta(7)-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J. Clin. Invest. 96: 1779-1785, 1995. [PubMed: 7560069] [Full Text: https://doi.org/10.1172/JCI118223\]
  94. Sikora, D. M., Pettit-Kekel. K., Penfield, J., Merkens, L. S., Steiner, R. D.The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 140A: 1511-1518, 2006. [PubMed: 16761297] [Full Text: https://doi.org/10.1002/ajmg.a.31294\]
  95. Smith, D. W., Lemli, L., Opitz, J. M.A newly recognized syndrome of multiple congenital anomalies. J. Pediat. 64: 210-217, 1964. [PubMed: 14119520] [Full Text: https://doi.org/10.1016/s0022-3476(64)80264-x\]
  96. Suzuki, K., De Paul, L. D.Cellular degeneration in developing central nervous system of rats produced by hypocholesteremic drug AY9944. Lab. Invest. 25: 546-555, 1971. [PubMed: 4331663]
  97. Tierney, E., Nwokoro, N. A., Porter, F. D., Freund, L. S., Ghuman, J. K., Kelley, R. I.Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 98: 191-200, 2001. [PubMed: 11223857] [Full Text: https://doi.org/10.1002/1096-8628(20010115)98:2<191::aid-ajmg1030>3.0.co;2-m]
  98. Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., Salen, G.Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New Eng. J. Med. 330: 107-113, 1994. [PubMed: 8259166] [Full Text: https://doi.org/10.1056/NEJM199401133300205\]
  99. Tint, G. S., Salen, G., Batta, A. K., Shefer, S., Irons, M., Ampola, M., Frieden, R.Abnormal cholesterol and bile acid synthesis in an infant with a defect in 7-dehydrocholesterol (7DHC)-lambda-7 reductase. (Abstract) Gastroenterology 104: 1008A, 1993.
  100. Tint, G. S., Salen, G., Batta, A. K., Shefer, S., Irons, M., Elias, E. R., Abuelo, D. N., Johnson, V. P., Lambert, M., Lutz, R., Schanen, C., Morris, C. A., Hoganson, G., Hughes-Benzie, R.Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J. Pediat. 127: 82-87, 1995. [PubMed: 7608816] [Full Text: https://doi.org/10.1016/s0022-3476(95)70261-x\]
  101. Tint, G. S.Cholesterol defect in Smith-Lemli-Opitz syndrome. (Letter) Am. J. Med. Genet. 47: 573-574, 1993. [PubMed: 8256825] [Full Text: https://doi.org/10.1002/ajmg.1320470429\]
  102. Wallace, M., Zori, R. T., Alley, T., Whidden, E., Gray, B. A., Williams, C. A.Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. Am. J. Med. Genet. 50: 368-374, 1994. [PubMed: 8209918] [Full Text: https://doi.org/10.1002/ajmg.1320500414\]
  103. Wassif, C. A., Kratz, L., Sparks, S. E., Wheeler, C., Bianconi, S., Gropman, A., Calis, K. A., Kelley, R. I., Tierney, E., Porter, F. D.A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet. Med. 19: 297-305, 2017. [PubMed: 27513191] [Full Text: https://doi.org/10.1038/gim.2016.102\]
  104. Wassif, C. A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L. M., Connor, W. E., Steiner, R. D., Porter, F. D.Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 63: 55-62, 1998. [PubMed: 9634533] [Full Text: https://doi.org/10.1086/301936\]
  105. Wassif, C. A., Zhu, P., Kratz, L., Krakowiak, P. A., Battaile, K. P., Weight, F. F., Grinberg, A., Steiner, R. D., Nwokoro, N. A., Kelley, R. I., Stewart, R. R., Porter, F. D.Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum. Molec. Genet. 10: 555-564, 2001. [PubMed: 11230174] [Full Text: https://doi.org/10.1093/hmg/10.6.555\]
  106. Weber, J. W., Schwarz, H.Der typus Rostockiensis Ullrich-Feichtiger Dyskraniopygophalangie. Helv. Paediat. Acta 15: 163-170, 1960. [PubMed: 13843313]
  107. Witsch-Baumgartner, M., Ciara, E., Loffler, J., Menzel, H. J., Seedorf, U., Burn, J., Gillessen-Kaesbach, G., Hoffmann, G. F., Fitzky, B. U., Mundy, H., Clayton, P., Kelley, R. I., Krajewska-Walasek, M., Utermann, G.Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Europ. J. Hum. Genet. 9: 45-50, 2001. [PubMed: 11175299] [Full Text: https://doi.org/10.1038/sj.ejhg.5200579\]
  108. Witsch-Baumgartner, M., Gruber, M., Kraft, H. G., Rossi, M., Clayton, P., Giros, M., Haas, D., Kelley, R. I., Krajewska-Walasek, M., Utermann, G.Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. J. Med. Genet. 41: 577-584, 2004. [PubMed: 15286151] [Full Text: https://doi.org/10.1136/jmg.2004.018085\]
  109. Witsch-Baumgartner, M., Schwentner, I., Gruber, M., Benlian, P., Bertranpetit, J., Bieth, E., Chevy, F., Clusellas, N., Estivill, X., Gasparini, G., Giros, M., Kelley, R. I., and 17 others.Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J. Med. Genet. 45: 200-209, 2008. [PubMed: 17965227] [Full Text: https://doi.org/10.1136/jmg.2007.053520\]
  110. Xu, G., Salen, G., Shefer, S., Ness, G. C., Chen, T. S., Zhao, Z., Tint, G. S.Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. J. Clin. Invest. 95: 76-81, 1995. [PubMed: 7814648] [Full Text: https://doi.org/10.1172/JCI117678\]
  111. Yu, H., Lee, M.-H., Starck, L., Elias, E. R., Irons, M., Salen, G., Patel, S. B., Tint, G. S.Spectrum of delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum. Molec. Genet. 9: 1385-1391, 2000. Note: Erratum: Hum. Molec. Genet. 9: 1903 only, 2000. [PubMed: 10814720] [Full Text: https://doi.org/10.1093/hmg/9.9.1385\]
  112. Yu, H., Tint, G. S., Salen, G., Patel, S. B.Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G-C is found in over sixty percent of US propositi. Am. J. Med. Genet. 90: 347-350, 2000. [PubMed: 10710236] [Full Text: https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<347::aid-ajmg16>3.0.co;2-7]