Smith-Lemli-Opitz Syndrome Differential Diagnoses

1. Piscianz E, Vecchi Brumatti L, Tommasini A, Marcuzzi A. Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?. Neural Regen Res. 2019 Apr. 14 (4):582-7. [QxMD MEDLINE Link]. [Full Text].

2. Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet. 2012 Nov 15. 160C(4):285-94. [QxMD MEDLINE Link].

3. Wassif CA, Kratz L, Sparks SE, et al. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 2017 Mar. 19 (3):297-305. [QxMD MEDLINE Link]. [Full Text].

4. Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr. 1964 Feb. 64:210-7. [QxMD MEDLINE Link].

5. Opitz JM. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr. 1999 Aug. 11(4):353-62. [QxMD MEDLINE Link].

6. Irons M, Elias ER, Tint GS. 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. 1994 May 1. 50(4):347-52. [QxMD MEDLINE Link].

7. Pappu AS, Connor WE, Merkens LS, et al. Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. J Lipid Res. 2006 Dec. 47(12):2789-98. [QxMD MEDLINE Link].

8. Merkens MJ, Sinden NL, Brown CD, et al. Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. J Pediatr. 2014 Oct. 165(4):836-41.e1. [QxMD MEDLINE Link]. [Full Text].

9. Sparks SE, Wassif CA, Goodwin H, et al. Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2014 May. 37(3):415-20. [QxMD MEDLINE Link]. [Full Text].

10. Hanissian AS, Summitt RL. Smith-Lemli-Opitz Syndrome in a Negro Child. J Pediatr. 1969 Feb. 74(2):303-5. [QxMD MEDLINE Link].

11. Kelley RI. A new face for an old syndrome [editorial]. Am J Med Genet. 1997 Jan 31. 68(3):251-6. [QxMD MEDLINE Link].

12. Yu H, Tint GS, Salen G, 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. 2000 Feb 14. 90(4):347-50. [QxMD MEDLINE Link].

13. Nowaczyk MJ, McCaughey D, Whelan DT, et al. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am J Med Genet. 2001 Jul 22. 102(1):18-20. [QxMD MEDLINE Link].

14. Wright BS, Nwokoro NA, Wassif CA, et al. Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation inAfrican Americans. Am J Med Genet. 2003 Jul 1. 120A(1):139-41. [QxMD MEDLINE Link].

15. Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, et al. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet. 2008 Apr. 45(4):200-9. [QxMD MEDLINE Link].

16. Gibbins KJ, Reddy UM, Saade GR, et al. Smith-Lemli-Opitz Mutations in Unexplained Stillbirths. Am J Perinatol. 2018 Aug. 35 (10):936-9. [QxMD MEDLINE Link]. [Full Text].

17. Daum H, Meiner V, Michaelson-Cohen R, 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. 2020 Jul. 28 (7):938-42. [QxMD MEDLINE Link].

18. Katheria AC, Masliah E, Benirschke K, Jones KL, Kim JH. Idiopathic persistent pulmonary hypertension in an infant with Smith-Lemli-Opitz syndrome. Fetal Pediatr Pathol. 2010. 29(6):373-9. [QxMD MEDLINE Link].

19. Rossi M, Vajro P, Iorio R, et al. Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Am J Med Genet A. 2005 Jan 15. 132(2):144-51. [QxMD MEDLINE Link].

20. Atchaneeyasakul LO, Linck LM, Connor WE. Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 1998 Dec 28. 80(5):501-5. [QxMD MEDLINE Link].

21. Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct. 121(2):85-91. [QxMD MEDLINE Link]. [Full Text].

22. Goodwin H, Brooks BP, Porter FD. Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2008 Jan 15. 146A(2):208-11. [QxMD MEDLINE Link].

23. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15. 140(14):1511-8. [QxMD MEDLINE Link].

24. Eroglu Y, Nguyen-Driver M, Steiner RD, et al. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Mar 27. [QxMD MEDLINE Link].

25. Lee RW, McGready J, Conley SK, Yanjanin NM, Nowaczyk MJ, Porter FD. Growth charts for individuals with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2012 Nov. 158A(11):2707-13. [QxMD MEDLINE Link]. [Full Text].

26. Oslejskova H, Horinova V, Sterba J, et al. Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. J Pediatr Hematol Oncol. 2008 Sep. 30(9):689-91. [QxMD MEDLINE Link].

27. Goodwin H, Brooks BP, Porter FD. Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2008 Jan 15. 146A(2):208-11. [QxMD MEDLINE Link].

28. Waterham HR, Hennekam RC. Mutational spectrum of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 2012 Nov 15. 160C(4):263-84. [QxMD MEDLINE Link].

29. Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, et al. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan. 54(1):244-53. [QxMD MEDLINE Link]. [Full Text].

30. Shackleton CH, Roitman E, Kratz LE. Equine type estrogens produced by a pregnant woman carrying a Smith- Lemli-Opitz syndrome fetus. J Clin Endocrinol Metab. 1999 Mar. 84(3):1157-9. [QxMD MEDLINE Link].

31. Ness GC, Lopez D, Borrego O. Increased expression of low-density lipoprotein receptors in a Smith- Lemli-Opitz infant with elevated bilirubin levels. Am J Med Genet. 1997 Jan 31. 68(3):294-9. [QxMD MEDLINE Link].

32. Tierney E, Conley SK, Goodwin H, Porter FD. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2010 Jan. 152A(1):91-5. [QxMD MEDLINE Link]. [Full Text].

33. Irons MB, Nores J, Stewart TL. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999 May-Jun. 14(3):133-7. [QxMD MEDLINE Link].

34. Haas D, Garbade SF, Vohwinkel C, et al. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis. 2007 Jun. 30(3):375-87. [QxMD MEDLINE Link].

35. Zalewski CK, Sydlowski SA, King KA, et al. Auditory phenotype of Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2021 Apr. 185 (4):1131-41. [QxMD MEDLINE Link]. [Full Text].

36. Nowaczyk MJ, Siu VM, Krakowiak PA, et al. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001 Oct 15. 103(3):223-5. [QxMD MEDLINE Link].

37. Pauli RM, Williams MS, Josephson KD. Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome. Am J Med Genet. 1997 Jan 31. 68(3):260-2. [QxMD MEDLINE Link].

Robert D Steiner, MD, FAAP, FACMG Professor (Clinical), Department of Pediatrics, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics

Robert D Steiner, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: PreventionGenetics, ACMG, Acer Therapeutics, Biomarin; Best Doctors, Health Advances, Precision for Health, PTC Therapeutics, CTX Alliance, Aeglea, Eton, Leadiant<br/>Serve(d) as a speaker or a member of a speakers bureau for: France Foundation, Medscape<br/>Received research grant from: Alexion<br/>Received income in an amount equal to or greater than $250 from: Marshfield Clinic, France Foundation, Medscape, PreventionGenetics, ACMG, Acer Therapeutics; Raptor, Retrophin/Travere, Censa; Biomarin; Best Doctors, Health Advances, Precision for Health, PTC Therapeutics, Aeglea, Leadiant<br/>Travel Support for: CTX Alliance.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luis O Rohena, MD, MS, FAAP, FACMG Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Elaine H Zackai, MD Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia

Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate-Craniofacial Association, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Laura S Martin, MD, and Roderick F Hume, MD, to the writing and development of this article.

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