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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, 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. Ballout RA et al: Statins for Smith-Lemli-Opitz syndrome. Cochrane Libr. 2020(1):CD013521, 2020
                                  2. Daum H et al: Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? Eur J Hum Genet. 28(7):938-42, 2020
                                  3. Schoner K et al: Smith-Lemli-Opitz syndrome - fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. Birth Defects Res. 112(2):175-85, 2020
                                  4. Rojare C et al: The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: case reports and literature review. Int Orthod. 17(2):375-83, 2019
                                  5. Donoghue SE et al: Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab. 31(4):451-9, 2018
                                  6. Fliesler SJ et al: Oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome: implications for an improved therapeutic intervention. Molecules. 23(10), 2018
                                  7. Gibbins KJ et al: Smith-Lemli-Opitz mutations in unexplained stillbirths. Am J Perinatol. 35(10):936-9, 2018
                                  8. Ramachandra Rao S et al: Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz syndrome. Autophagy. 14(10):796-1817, 2018
                                  9. Eroglu Y et al: Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 173(8):2097-100, 2017
                                  10. Wassif CA et al: A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 19(3):297-305, 2017
                                  11. Kanungo S et al: Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev. 17(3):197-210, 2013
                                  12. Lee RW et al: Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 161A(10):2407-19, 2013
                                  13. 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
                                  14. 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
                                  15. 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
                                  16. Orth M et al: Cholesterol: its regulation and role in central nervous system disorders. Cholesterol. 2012:292598, 2012
                                  17. 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
                                  18. Waterham HR et al: Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):263-84, 2012
                                  19. 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
                                  20. Tierney E et al: Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 98(2):191-200, 2001
                                  21. Kelley RI et al: The Smith-Lemli-Opitz syndrome. J Med Genet. 37(5):321-35, 2000
                                  22. 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
                                  23. 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
                                  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, 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. Ballout RA et al: Statins for Smith-Lemli-Opitz syndrome. Cochrane Libr. 2020(1):CD013521, 2020
                                                                  2. Daum H et al: Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? Eur J Hum Genet. 28(7):938-42, 2020
                                                                  3. Schoner K et al: Smith-Lemli-Opitz syndrome - fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. Birth Defects Res. 112(2):175-85, 2020
                                                                  4. Rojare C et al: The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: case reports and literature review. Int Orthod. 17(2):375-83, 2019
                                                                  5. Donoghue SE et al: Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab. 31(4):451-9, 2018
                                                                  6. Fliesler SJ et al: Oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome: implications for an improved therapeutic intervention. Molecules. 23(10), 2018
                                                                  7. Gibbins KJ et al: Smith-Lemli-Opitz mutations in unexplained stillbirths. Am J Perinatol. 35(10):936-9, 2018
                                                                  8. Ramachandra Rao S et al: Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz syndrome. Autophagy. 14(10):796-1817, 2018
                                                                  9. Eroglu Y et al: Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 173(8):2097-100, 2017
                                                                  10. Wassif CA et al: A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 19(3):297-305, 2017
                                                                  11. Kanungo S et al: Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev. 17(3):197-210, 2013
                                                                  12. Lee RW et al: Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 161A(10):2407-19, 2013
                                                                  13. 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
                                                                  14. 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
                                                                  15. 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
                                                                  16. Orth M et al: Cholesterol: its regulation and role in central nervous system disorders. Cholesterol. 2012:292598, 2012
                                                                  17. 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
                                                                  18. Waterham HR et al: Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 160C(4):263-84, 2012
                                                                  19. 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
                                                                  20. Tierney E et al: Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 98(2):191-200, 2001
                                                                  21. Kelley RI et al: The Smith-Lemli-Opitz syndrome. J Med Genet. 37(5):321-35, 2000
                                                                  22. 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
                                                                  23. 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