Smith-Lemli-Opitz Syndrome Differential Diagnoses

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

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

3. 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. [Medline].

4. 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. [Medline].

5. 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. [Medline]. [Full Text].

6. 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. [Medline]. [Full Text].

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

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

9. 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. [Medline].

10. 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. [Medline].

11. 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. [Medline].

12. 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. [Medline].

13. 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. [Medline].

14. 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. [Medline].

15. 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. [Medline].

16. 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. [Medline]. [Full Text].

17. 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. [Medline].

18. 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. [Medline].

19. 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. [Medline].

20. 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. [Medline]. [Full Text].

21. 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. [Medline].

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. [Medline].

23. 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. [Medline].

24. 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. [Medline]. [Full Text].

25. 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. [Medline].

26. 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. [Medline].

27. 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. [Medline].

28. 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. [Medline]. [Full Text].

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

30. 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. [Medline].

31. 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. [Medline]. [Full Text].

32. 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. [Medline].

33. 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. [Medline].

34. Abuelo DN, Tint GS, Kelley R. Prenatal detection of the cholesterol biosynthetic defect in the Smith- Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet. 1995 Apr 10. 56(3):281-5. [Medline].

35. Angle B, Tint GS, Yacoub OA. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. Am J Med Genet. 1998 Dec 4. 80(4):322-6. [Medline].

36. Azurdia RM, Anstey AV, Rhodes LE. Cholesterol supplementation objectively reduces photosensitivity in theSmith-Lemli-Opitz syndrome. Br J Dermatol. 2001 Jan. 144(1):143-5. [Medline].

37. Battaile KP, Maslen CL, Wassif CA, et al. A simple PCR-based assay allows detection of a common mutation, IVS8-1G- ->C, in DHCR7 in Smith-Lemli-Opitz syndrome. Genet Test. 1999. 3(4):361-3. [Medline].

38. Battaile KP, Steiner RD. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis [In Process Citation]. Mol Genet Metab. 2000 Sep-Oct. 71(1-2):154-62. [Medline].

39. Battaille KP, Battaile BC, Merkens LS. Carrier frequency of the common mutation IVS8-1 G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Gen Metab. 2001. 72:67-71. [Full Text].

40. Bradley LA, Palomaki GE, Knight GJ. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses [letter]. Am J Med Genet. 1999 Feb 12. 82(4):355-8. [Medline].

41. Bronshtein M, Riechler A, Zimmer EZ. Prenatal sonographic signs of possible fetal genital anomalies. Prenat Diagn. 1995 Mar. 15(3):215-9. [Medline].

42. Canick JA, Abuelo DN, Bradley LA. Maternal serum marker levels in two pregnancies affected with Smith- Lemli-Opitz syndrome [letter]. Prenat Diagn. 1997 Feb. 17(2):187-9. [Medline].

43. Chambers CM, McLean MP, Ness GC. Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. Am J Med Genet. 1997 Jan 31. 68(3):322-7. [Medline].

44. Cunniff C, Kratz LE, Moser A. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli- Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997 Jan 31. 68(3):263-9. [Medline].

45. Dallaire L, Mitchell G, Giguere R. Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Prenat Diagn. 1995 Sep. 15(9):855-8. [Medline].

46. Dehart DB, Lanoue L, Tint GS. Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. Am J Med Genet. 1997 Jan 31. 68(3):328-37. [Medline].

47. Elias ER, Hansen RM, Irons M, et al. Rod photoreceptor responses in children with smith-lemli-opitz syndrome. Arch Ophthalmol. 2003 Dec. 121(12):1738-43. [Medline].

48. Elias ER, Irons MB, Hurley AD. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet. 1997 Jan 31. 68(3):305-10. [Medline].

49. Fitzky BU, Witsch-Baumgartner M, Erdel M. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998 Jul 7. 95(14):8181-6. [Medline].

50. Ginat S, Battaile KP, Battaile BC. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2004 Sep-Oct. 83(1-2):175-83. [Medline].

51. Ginat S, Maslen CL, Connor WE. Smith-Lemli-Opitz syndrome: a multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis. The Endocrinologist. 2000. 10:300-314.

52. Herz J, Willnow TE, Farese RV Jr. Cholesterol, hedgehog and embryogenesis [letter]. Nat Genet. 1997 Feb. 15(2):123-4. [Medline].

53. Honda A, Batta AK, Salen G. Screening for abnormal cholesterol biosynthesis in the Smith-Lemli- Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. Am J Med Genet. 1997 Jan 31. 68(3):288-93. [Medline].

54. Honda A, Tint GS, Salen G. Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. Am J Med Genet. 1997 Jan 31. 68(3):282-7. [Medline].

55. Honda M, Tint GS, Shefer S. Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts. J Inherit Metab Dis. 1998 Oct. 21(7):761-8. [Medline].

56. Hyett JA, Clayton PT, Moscoso G. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet. 1995 Sep 25. 58(4):374-6. [Medline].

57. Irons M, Elias ER, Abuelo D. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31. 68(3):311-4. [Medline].

58. Irons M, Elias ER, Salen G. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome [letter]. Lancet. 1993 May 29. 341(8857):1414. [Medline].

59. Irons MB, Tint GS. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr. 18(4):369-72. [Medline].

60. Jira P, Wevers R, de Jong J. New treatment strategy for Smith-Lemli-Opitz syndrome [letter]. Lancet. 1997 Apr 26. 349(9060):1222. [Medline].

61. Jira PE, Wevers RA, de Jong J. Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res. 2000 Aug. 41(8):1339-46. [Medline].

62. Johnson DW, ten Brink HJ, Jakobs C. A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. J Lipid Res. 2001 Oct. 42(10):1699-705. [Medline].

63. Johnson JA, Aughton DJ, Comstock CH. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am J Med Genet. 1994 Jan 15. 49(2):240-3. [Medline].

64. Kelley RI. RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am J Hum Genet. 1998 Aug. 63(2):322-6. [Medline].

65. Krakowiak PA, Nwokoro NA, Wassif CA. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping [In Process Citation]. Am J Med Genet. 2000 Sep 18. 94(3):214-27. [Medline].

66. Lin DS, Steiner RD, Flavell DP. Intestinal absorption of cholesterol by patients with smith-lemli-opitz syndrome. Pediatr Res. 2005 Jun. 57(6):765-70. [Medline].

67. Linck LM, Hayflick SJ, Lin DS, et al. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)- reductase activity in chorionic villi. Prenat Diagn. 2000 Mar. 20(3):238-40. [Medline].

68. Linck LM, Lin DS, Flavell D. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome [In Process Citation]. Am J Med Genet. 2000 Aug 28. 93(5):360-5. [Medline].

69. Lowry RB, Yong SL. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet. 1980. 5(2):137-43. [Medline].

70. McGaughran JM, Clayton PT, Mills KA. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet. 1995 Apr 10. 56(3):269-71. [Medline].

71. McKusick VA. OMIM Number:270400. Online Mendelian Inheritance in Man, OMIM. Available at http://www.ncbi.nlm.nih.gov/omim/. Accessed: October 3, 1999.

72. Merkens LS, Connor WE, Linck LM. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res. 2004 Nov. 56(5):726-32. [Medline].

73. Mills K, Mandel H, Montemagno R. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7- dehydrocholesterol reductase deficiency). Pediatr Res. 1996 May. 39(5):816-9. [Medline].

74. Moebius FF, Fitzky BU, Lee JN. Molecular cloning and expression of the human delta7-sterol reductase. Proc Natl Acad Sci U S A. 1998 Feb 17. 95(4):1899-902. [Medline].

75. Nowaczyk MJ, Nakamura LM, Eng B, et al. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001 Sep 1. 102(4):383-6. [Medline].

76. Nowaczyk MJ, Siu VM, Krakowiak PA, Porter FD. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001 Oct 15. 103(3):223-5. [Medline].

77. Nwokoro NA, Mulvihill JJ. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet. 1997 Jan 31. 68(3):315-21. [Medline].

78. Opitz JM. The RSH syndrome: Paradigmatic metabolic malformation syndrome. New M, ed. Diagnosis and Treatment of the Unborn Child. 1999. 43-55.

79. Palomaki GE, Bradley LA, Knight GJ, Craig WY, Haddow JE. Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen. 2002. 9(1):43-4. [Medline].

80. Porter FD. RSH/Smith-Lemli-Opitz syndrome: A multiple congenital Anomaly/Mental retardation syndrome due to an inborn error of cholesterol biosynthesis [In Process Citation]. Mol Genet Metab. 2000 Sep-Oct. 71(1-2):163-74. [Medline].

81. Porter JA, Young KE, Beachy PA. Cholesterol modification of hedgehog signaling proteins in animal development [published erratum appears in Science 1996 Dec 6;274(5293):1597]. Science. 1996 Oct 11. 274(5285):255-9. [Medline].

82. Quezado ZM, Veihmeyer J, Schwartz L, et al. Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. Anesthesiology. 2002 Oct. 97(4):1015-9. [Medline].

83. Roessler E, Belloni E, Gaudenz K. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet. 1997 Oct. 6(11):1847-53. [Medline].

84. Rossiter JP, Hofman KJ, Kelley RI. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. Am J Med Genet. 1995 Apr 10. 56(3):272-5. [Medline].

85. Shackleton CH, Marcos J, Palomaki GE, et al. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet A. 2007 Sep 15. 143A(18):2129-36. [Medline].

86. Sharp P, Haan E, Fletcher JM. First-trimester diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1997 Apr. 17(4):355-61. [Medline].

87. Sikora DM, Ruggiero M, Petit-Kekel K. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr. 2004 Jun. 144(6):783-91. [Medline].

88. Starck L, Lovgren-Sandblom A, Bjorkhem I. Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. J Intern Med. 2002 Oct. 252(4):314-21. [Medline].

89. Starck L, Lovgren-Sandblom A, Bjorkhem I. Simvastatin treatment in the SLO syndrome: a safe approach?. Am J Med Genet. 2002 Nov 22. 113(2):183-9. [Medline].

90. Steiner RD, Linck LM, Flavell DP. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction In whole body cholesterol synthesis and normal bile acid production [In Process Citation]. J Lipid Res. 2000 Sep. 41(9):1437-47. [Medline].

91. Tierney E, Nwokoro NA, Porter FD, et al. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 2001 Jan 15. 98(2):191-200. [Medline].

92. Tint GS. Cholesterol defect in Smith-Lemli-Opitz syndrome [letter]. Am J Med Genet. 1993 Sep 15. 47(4):573-4. [Medline].

93. Tint GS, Abuelo D, Till M. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul. 18(7):651-8. [Medline].

94. Tint GS, Irons M, Elias ER. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13. 330(2):107-13. [Medline].

95. Tsukahara M, Fujisawa K, Yamamoto K. Smith-Lemli-Opitz syndrome in Japan. Am J Med Genet. 1998 Jan 6. 75(1):118-9. [Medline].

96. Wanders RJ, Romeijn GJ, Wijburg F. Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection. J Inherit Metab Dis. 1997 Jul. 20(3):432-6. [Medline].

97. Wassif CA, Krakowiak PA, Wright BS. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab. 2005 Jun. 85(2):96-107. [Medline].

98. Wassif CA, Maslen C, Kachilele-Linjewile S, et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet. 1998 Jul. 63(1):55-62. [Medline].

99. Wassif CA, Zhu P, Kratz L, et al. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Hum Mol Genet. 2001 Mar 15. 10(6):555-64. [Medline].

100. Waterham HR, Wijburg FA, Hennekam RC. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. Am J Hum Genet. 1998 Aug. 63(2):329-38. [Medline].

101. Witsch-Baumgartner M, Ciara E, Loffler J, et al. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitzsyndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet. 2001 Jan. 9(1):45-50. [Medline].

102. Zimmerman PA, Hercules DM, Naylor EW. Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. Am J Med Genet. 1997 Jan 31. 68(3):300-4. [Medline].

Robert D Steiner, MD Chief Medical Officer, PreventionGenetics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

Robert D Steiner, MD 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: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; PreventionGenetics<br/>Received research grant from: Alexion<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; Prevention Genetics<br/>Travel Support for: Pfizer.

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

Luis O Rohena, MD, 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.

• Print this section
• Print the entire contents of
• Print the entire contents of article