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Smith-Lemli-Opitz Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Smith-Lemli-Opitz syndrome (SLOS)
            • Synonyms

              • RSH syndrome (initials of 1st 3 patients described by Opitz et al)
              • SLOS/RSH syndrome
            • Definitions

              • Disorder of cholesterol biosynthesis characterized by fetal growth restriction (FGR), multiple congenital anomalies, and developmental delay
                • SLOS I and II in older literature: Part of phenotypic spectrum of same disorder

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Kanungo S et al: Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev. 17(3):197-210, 2013
                                  2. Lee RW et al: Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 161A(10):2407-19, 2013
                                  3. Diaz-Stransky A et al: Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):295-300, 2012
                                  4. Nowaczyk MJ et al: Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 160C(4):250-62, 2012
                                  5. Opitz JM et al: The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote. Am J Med Genet C Semin Med Genet. 160C(4):242-9, 2012
                                  6. Orth M et al: Cholesterol: its regulation and role in central nervous system disorders. Cholesterol. 2012:292598, 2012
                                  7. Svoboda MD et al: Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet. 160C(4):285-94, 2012
                                  8. Waterham HR et al: Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):263-84, 2012
                                  9. Cohen MM Jr: Hedgehog signaling update. Am J Med Genet A. 152A(8):1875-914, 2010
                                  10. Jezela-Stanek A et al: Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? J Inherit Metab Dis. Epub ahead of print, 2010
                                  11. Kazerouni NN et al: Ancillary benefits of prenatal maternal serum screening achieved in the California program. Prenat Diagn. 30(10):981-7, 2010
                                  12. Koo G et al: Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 152A(8):2094-8, 2010
                                  13. Matabosch X et al: Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. J Steroid Biochem Mol Biol. 122(5):303-9, 2010
                                  14. Patti GJ et al: Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. Neuroscience. 170(3):858-64, 2010
                                  15. Pineda-Alvarez DE et al: Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet. 154C(1):93-101, 2010
                                  16. Porter FD et al: Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res. 52(1):6-34, 2010
                                  17. Tierney E et al: Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 152A(1):91-5, 2010
                                  18. Weaver DD et al: Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. Am J Med Genet C Semin Med Genet. 154C(1):142-5, 2010
                                  19. Chan YM et al: Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res. 65(6):681-5, 2009
                                  20. Merkens LS et al: Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. Genet Med. 11(5):359-64, 2009
                                  21. Griffiths WJ et al: Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Clin Chem. 54(8):1317-24, 2008
                                  22. Haas D et al: Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. Biofactors. 32(1-4):191-7, 2008
                                  23. Lindegaard ML et al: Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. Hum Mol Genet. 17(23):3806-13, 2008
                                  24. Liss J et al: Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. Fertil Steril. 90(5):2011, 2008
                                  25. Witsch-Baumgartner M et al: Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet. 45(4):200-9, 2008
                                  26. Craig WY et al: Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn. 27(5):409-14, 2007
                                  27. Shackleton CH et al: Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet A. 143A(18):2129-36, 2007
                                  28. Goldenberg A et al: Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am J Med Genet A. 124(4):423-6, 2004
                                  29. Sikora DM et al: Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr. 144(6):783-91, 2004
                                  30. Witsch-Baumgartner M et al: Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. J Med Genet. 41(8):577-84, 2004
                                  31. Digilio MC et al: Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. Birth Defects Res A Clin Mol Teratol. 67(3):149-53, 2003
                                  32. Gofflot F et al: Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling. Hum Mol Genet. 12(10):1187-98, 2003
                                  33. Fitzky BU et al: 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J Clin Invest. 108(6):905-15, 2001
                                  34. Tierney E et al: Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 98(2):191-200, 2001
                                  35. Kelley RI et al: The Smith-Lemli-Opitz syndrome. J Med Genet. 37(5):321-35, 2000
                                  36. Yu H et al: Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. Am J Med Genet. 90(4):347-50, 2000
                                  37. Yu H et al: Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 9(9):1385-91, 2000
                                  38. Opitz JM et al: Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. Am J Med Genet. 50(4):326-38, 1994
                                  39. Tint GS et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 330(2):107-13, 1994
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Smith-Lemli-Opitz syndrome (SLOS)
                                            • Synonyms

                                              • RSH syndrome (initials of 1st 3 patients described by Opitz et al)
                                              • SLOS/RSH syndrome
                                            • Definitions

                                              • Disorder of cholesterol biosynthesis characterized by fetal growth restriction (FGR), multiple congenital anomalies, and developmental delay
                                                • SLOS I and II in older literature: Part of phenotypic spectrum of same disorder

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Microscopic Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Kanungo S et al: Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev. 17(3):197-210, 2013
                                                                  2. Lee RW et al: Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 161A(10):2407-19, 2013
                                                                  3. Diaz-Stransky A et al: Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):295-300, 2012
                                                                  4. Nowaczyk MJ et al: Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 160C(4):250-62, 2012
                                                                  5. Opitz JM et al: The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote. Am J Med Genet C Semin Med Genet. 160C(4):242-9, 2012
                                                                  6. Orth M et al: Cholesterol: its regulation and role in central nervous system disorders. Cholesterol. 2012:292598, 2012
                                                                  7. Svoboda MD et al: Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet. 160C(4):285-94, 2012
                                                                  8. Waterham HR et al: Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):263-84, 2012
                                                                  9. Cohen MM Jr: Hedgehog signaling update. Am J Med Genet A. 152A(8):1875-914, 2010
                                                                  10. Jezela-Stanek A et al: Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? J Inherit Metab Dis. Epub ahead of print, 2010
                                                                  11. Kazerouni NN et al: Ancillary benefits of prenatal maternal serum screening achieved in the California program. Prenat Diagn. 30(10):981-7, 2010
                                                                  12. Koo G et al: Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 152A(8):2094-8, 2010
                                                                  13. Matabosch X et al: Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. J Steroid Biochem Mol Biol. 122(5):303-9, 2010
                                                                  14. Patti GJ et al: Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. Neuroscience. 170(3):858-64, 2010
                                                                  15. Pineda-Alvarez DE et al: Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet. 154C(1):93-101, 2010
                                                                  16. Porter FD et al: Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res. 52(1):6-34, 2010
                                                                  17. Tierney E et al: Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 152A(1):91-5, 2010
                                                                  18. Weaver DD et al: Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. Am J Med Genet C Semin Med Genet. 154C(1):142-5, 2010
                                                                  19. Chan YM et al: Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res. 65(6):681-5, 2009
                                                                  20. Merkens LS et al: Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. Genet Med. 11(5):359-64, 2009
                                                                  21. Griffiths WJ et al: Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. Clin Chem. 54(8):1317-24, 2008
                                                                  22. Haas D et al: Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. Biofactors. 32(1-4):191-7, 2008
                                                                  23. Lindegaard ML et al: Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. Hum Mol Genet. 17(23):3806-13, 2008
                                                                  24. Liss J et al: Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. Fertil Steril. 90(5):2011, 2008
                                                                  25. Witsch-Baumgartner M et al: Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet. 45(4):200-9, 2008
                                                                  26. Craig WY et al: Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn. 27(5):409-14, 2007
                                                                  27. Shackleton CH et al: Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet A. 143A(18):2129-36, 2007
                                                                  28. Goldenberg A et al: Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am J Med Genet A. 124(4):423-6, 2004
                                                                  29. Sikora DM et al: Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr. 144(6):783-91, 2004
                                                                  30. Witsch-Baumgartner M et al: Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. J Med Genet. 41(8):577-84, 2004
                                                                  31. Digilio MC et al: Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. Birth Defects Res A Clin Mol Teratol. 67(3):149-53, 2003
                                                                  32. Gofflot F et al: Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling. Hum Mol Genet. 12(10):1187-98, 2003
                                                                  33. Fitzky BU et al: 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. J Clin Invest. 108(6):905-15, 2001
                                                                  34. Tierney E et al: Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 98(2):191-200, 2001
                                                                  35. Kelley RI et al: The Smith-Lemli-Opitz syndrome. J Med Genet. 37(5):321-35, 2000
                                                                  36. Yu H et al: Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. Am J Med Genet. 90(4):347-50, 2000
                                                                  37. Yu H et al: Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 9(9):1385-91, 2000
                                                                  38. Opitz JM et al: Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. Am J Med Genet. 50(4):326-38, 1994
                                                                  39. Tint GS et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 330(2):107-13, 1994