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Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders†‡

  1. Melissa D. Svoboda§,
  2. Jill M. Christie,
  3. Yasemen Eroglu‖,
  4. Kurt A. Freeman††,
  5. Robert D. Steiner‡‡,*

Article first published online: 5 OCT 2012

DOI: 10.1002/ajmg.c.31347

Issue

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis

Volume 160C, Issue 4, pages 285–294, 15 November 2012

Additional Information

How to Cite

Svoboda, M. D., Christie, J. M., Eroglu, Y., Freeman, K. A. and Steiner, R. D. (2012), Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders. Am. J. Med. Genet., 160C: 285–294. doi: 10.1002/ajmg.c.31347

Author Information

  1. §

    Melissa D. Svoboda, M.D. is a Neurodevelopmental Pediatrics Fellow at Oregon Health & Science University (OHSU). Dr. Svoboda earned her M.D. and completed her Pediatrics residency at the University of Texas Health Science Center at San Antonio. Her current research interests include autism and sterol disorders, especially Smith–Lemli–Opitz syndrome and cerebrotendinous xanthomatosis.

  2. Jill M. Christie, MPAS, PA-C is a Physician Assistant at Oregon Health & Science University, where she trained. She is a co-investigator on metabolic disease clinical research studies, including Smith–Lemli–Opitz syndrome, osteogenesis imperfecta, Fabry disease, mucopolysaccharidoses, neuronal ceroid lipofuscinoses, and Gaucher disease.

  3. ‖

    Yasemen Eroglu, M.D. is a Clinical Associate Professor at OHSU in the Division of Pediatric Gastroenterology. She completed her Pediatric Gastroenterology and Hepatology fellowship at Northwestern University, Children's Memorial Hospital, Chicago, IL and Clinical Biochemical Genetics fellowship at Mount Sinai Medical Center, Department of Human Genetics, New York, NY. Her clinical and research interests include pediatric liver diseases, bile acid disorders, metabolic liver diseases, cerebrotendinous xanthomatosis, and Smith–Lemli–Opitz syndrome.

  4. ††

    Kurt A. Freeman, Ph.D., ABPP, is an Associate Professor of Pediatrics and Psychiatry at OHSU. Dr. Freeman earned his doctorate in Clinical Child Psychology from West Virginia University and is board certified in Clinical Child and Adolescent Psychology. Dr. Freeman's research focuses on behavioral assessment and treatment of aberrant behavior displayed by individuals with various neurodevelopmental disorders.

  5. ‡‡

    Robert D. Steiner, M.D. is Credit Unions for Kids Professor of Pediatric Research, Vice Chair for Research in Pediatrics, and Faculty in Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences at OHSU. Dr. Steiner earned his medical degree at the University of Wisconsin, followed by Pediatrics Residency at Children's Hospital and Medical Center in Cincinnati, and fellowship in Clinical Genetics and Clinical Biochemical Genetics at the University of Washington. He is principal investigator of the Sterol and Isoprenoid Research Consortium, (STAIR), a Rare Disease Clinical Research Consortium (RDCRC) in the NIH Rare Disease Clinical Research Network (RDCRN).

*Department of Pediatrics, Oregon Health & Science University, 707 SW Gaines St. CDRC-P, Portland, OR 97239.

  1. †

    How to cite this article: Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. 2012. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders. Am J Med Genet Part C Semin Med Genet 160C: 285–294.

  2. ‡

    Conflicts of interest: none to declare.

  3. §

    Melissa D. Svoboda, M.D. is a Neurodevelopmental Pediatrics Fellow at Oregon Health & Science University (OHSU). Dr. Svoboda earned her M.D. and completed her Pediatrics residency at the University of Texas Health Science Center at San Antonio. Her current research interests include autism and sterol disorders, especially Smith–Lemli–Opitz syndrome and cerebrotendinous xanthomatosis.

  4. Jill M. Christie, MPAS, PA-C is a Physician Assistant at Oregon Health & Science University, where she trained. She is a co-investigator on metabolic disease clinical research studies, including Smith–Lemli–Opitz syndrome, osteogenesis imperfecta, Fabry disease, mucopolysaccharidoses, neuronal ceroid lipofuscinoses, and Gaucher disease.

  5. ‖

    Yasemen Eroglu, M.D. is a Clinical Associate Professor at OHSU in the Division of Pediatric Gastroenterology. She completed her Pediatric Gastroenterology and Hepatology fellowship at Northwestern University, Children's Memorial Hospital, Chicago, IL and Clinical Biochemical Genetics fellowship at Mount Sinai Medical Center, Department of Human Genetics, New York, NY. Her clinical and research interests include pediatric liver diseases, bile acid disorders, metabolic liver diseases, cerebrotendinous xanthomatosis, and Smith–Lemli–Opitz syndrome.

  6. ††

    Kurt A. Freeman, Ph.D., ABPP, is an Associate Professor of Pediatrics and Psychiatry at OHSU. Dr. Freeman earned his doctorate in Clinical Child Psychology from West Virginia University and is board certified in Clinical Child and Adolescent Psychology. Dr. Freeman's research focuses on behavioral assessment and treatment of aberrant behavior displayed by individuals with various neurodevelopmental disorders.

  7. ‡‡

    Robert D. Steiner, M.D. is Credit Unions for Kids Professor of Pediatric Research, Vice Chair for Research in Pediatrics, and Faculty in Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences at OHSU. Dr. Steiner earned his medical degree at the University of Wisconsin, followed by Pediatrics Residency at Children's Hospital and Medical Center in Cincinnati, and fellowship in Clinical Genetics and Clinical Biochemical Genetics at the University of Washington. He is principal investigator of the Sterol and Isoprenoid Research Consortium, (STAIR), a Rare Disease Clinical Research Consortium (RDCRC) in the NIH Rare Disease Clinical Research Network (RDCRN).

Publication History

  1. Issue published online: 22 OCT 2012
  2. Article first published online: 5 OCT 2012

Funded by

  • HHS U54 HD061939
  • HHS R01 HL 073980

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