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Expert Opinion on Orphan Drugs Volume 3, 2015 - Issue 3
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Review

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

Simona E BianconiNational Institute of Child Health and Human Development, Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, 10 Center Drive, Bld 10 Rm 9D42, Bethesda, MD 20892, USA
, MD,
Joanna L CrossNational Institute of Child Health and Human Development, Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, 10 Center Drive, Bld 10 CRC, Rm 1-3288, Bethesda, MD 20892, USA
,
Christopher A WassifNational Institute of Child Health and Human Development, Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, 10 Center Drive, Bld 10 CRC, Rm 1-3288, Bethesda, MD 20892, USA
&
Forbes D PorterProgram in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, Bld 10, CRC, Rm 2571, Bethesda, MD 20892, USA+1 301 435 4432; +1 301 480 5791; [email protected]
, MD PhD
Pages 267-280 | Published online: 16 Feb 2015

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Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour & Pia Ostergaard. (2020) Fetal hydrops – a review and a clinical approach to identifying the cause. Expert Opinion on Orphan Drugs 8:2-3, pages 51-66.
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Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung & Carolyn Ellaway. (2023) Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays . Clinical Case Reports 11:2.
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Naoki Okamoto, Daiki Fujinaga & Naoki Yamanaka. 2023.
Bethany A. Freel, Benjamin A. Kelvington, Sonali Sengupta, Malini Mukherjee & Kevin R. Francis. (2022) Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk. Disease Models & Mechanisms 15:12.
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Jessica I. Gold, Nina B. Gold, Diva D. DeLeon & Rebecca Ganetzky. (2022) Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review. Orphanet Journal of Rare Diseases 17:1.
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Peter A Kaub, Peter C Sharp, Enzo Ranieri & Janice M Fletcher. (2021) Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing . Journal of Paediatrics and Child Health 58:4, pages 630-635.
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Zeljka Korade, Marija Heffer & Károly Mirnics. (2021) Medication effects on developmental sterol biosynthesis. Molecular Psychiatry 27:1, pages 490-501.
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Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira & Clara D. M. van Karnebeek. (2021) Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet Journal of Rare Diseases 16:1.
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N Begic, Z Begic & E Begic. (2021) Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience. Balkan Journal of Medical Genetics 24:1, pages 99-102.
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Jan Klouda, Lenka Benešová, Pavel Kočovský & Karolina Schwarzová-Pecková. (2021) Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis. Talanta 229, pages 122260.
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Simone Gana, Massimo Plumari, Elena Rossi, Annalisa Saracino, Melanie Iorio, Martina Paola Zanaboni, Simona Orcesi & Enza Maria Valente. (2020) Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome . American Journal of Medical Genetics Part A 182:11, pages 2722-2726.
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Jessica Hui, Sedat Giray Kandemirli & Takashi Shawn Sato. (2020) CHEDDA syndrome: a case report and review of the literature for this newly described entity. Radiology Case Reports 15:9, pages 1446-1449.
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Bethany A. Freel, Jordan N. Sheets & Kevin R. Francis. (2020) iPSC modeling of rare pediatric disorders. Journal of Neuroscience Methods 332, pages 108533.
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Stephanie Potts & Robert Carachi. 2020. Atlas of Paediatric Surgical Imaging. Atlas of Paediatric Surgical Imaging 325 344 .
Camille Rojare, Yasmin Opdenakker, Amélie Laborde, Romain Nicot, Karine Mention & Joel Ferri. (2019) The Smith–Lemli–Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. International Orthodontics 17:2, pages 375-383.
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Taner ÖZTÜRK & Nisa GÜL AMUK. (2019) Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment. Cumhuriyet Dental Journal 22:2, pages 245-250.
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Bianca M. L. Stelten, Olivier Bonnot, Hidde H. Huidekoper, Francjan J. van Spronsen, Peter M. van Hasselt, Leo A. J. Kluijtmans, Ron A. Wevers & Aad Verrips. (2017) Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Journal of Inherited Metabolic Disease 41:4, pages 641-646.
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Sarah E. Donoghue, James J. Pitt, Avihu Boneh & Susan M. White. (2018) Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. Journal of Pediatric Endocrinology and Metabolism 31:4, pages 451-459.
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Steven J. Fliesler, Neal S. Peachey, Josi Herron, Kelly M. Hines, Nadav I. Weinstock, Sriganesh Ramachandra Rao & Libin Xu. (2018) Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. Scientific Reports 8:1.
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Austin A. Larson & Ellen R. Elias. 2018. Developmental and Behavioral Pediatrics. Developmental and Behavioral Pediatrics.
Adetola F. Louis-Jacques, Anthony O. Odibo & Rachael J. Bradshaw. 2018. Obstetric Imaging: Fetal Diagnosis and Care. Obstetric Imaging: Fetal Diagnosis and Care 590 593.e1 .
Janet A. Thomas, Christina Lam & Gerard T. Berry. 2018. Avery's Diseases of the Newborn. Avery's Diseases of the Newborn 253 272.e3 .
S. Tercanli, P. Miny, U. Gembruch & H. M. Reutter. 2018. Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. Ultraschalldiagnostik in Geburtshilfe und Gynäkologie 661 692 .
André Travessa, Patrícia Dias, Pedro Rocha & Ana Berta Sousa. (2017) Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus. Taiwanese Journal of Obstetrics and Gynecology 56:4, pages 541-544.
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Anita M. Quintana, Jose A. Hernandez & Cesar G. Gonzalez. (2017) Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development. PLOS ONE 12:7, pages e0180856.
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Anika V. Prabhu, Winnie Luu, Laura J. Sharpe & Andrew J. Brown. (2017) Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis. The Journal of Steroid Biochemistry and Molecular Biology 165, pages 363-368.
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G. Aditya Kumar & Amitabha Chattopadhyay. (2016) Cholesterol: An evergreen molecule in biology. Biomedical Spectroscopy and Imaging 5:s1, pages S55-S66.
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Anika V. Prabhu, Winnie Luu, Dianfan Li, Laura J. Sharpe & Andrew J. Brown. (2016) DHCR7: A vital enzyme switch between cholesterol and vitamin D production. Progress in Lipid Research 64, pages 138-151.
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András Balajthy, Sándor Somodi, Zoltán Pethő, Mária Péter, Zoltán Varga, Gabriella P. Szabó, György Paragh, László Vígh, György Panyi & Péter Hajdu. (2016) 7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. Pflügers Archiv - European Journal of Physiology 468:8, pages 1403-1418.
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Myriam Gou-Fàbregas, Anna Macià, Carlos Anerillas, Marta Vaquero, Mariona Jové, Sanjay Jain, Joan Ribera & Mario Encinas. (2016) 7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome. Scientific Reports 6:1.
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Galya Staneva, Denis S. Osipenko, Timur R. Galimzyanov, Konstantin V. Pavlov & Sergey A. Akimov. (2016) Metabolic Precursor of Cholesterol Causes Formation of Chained Aggregates of Liquid-Ordered Domains. Langmuir 32:6, pages 1591-1600.
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Amy S. Paller & Anthony J. Mancini. 2016. Hurwitz Clinical Pediatric Dermatology. Hurwitz Clinical Pediatric Dermatology 448 466.e4 .
Alysse J. Sever, Michael D. Koets & Gauravi K. Sabharwal. (2015) Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome. Radiology Case Reports 10:4, pages 88-92.
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Saloni Pasta, Omoye Akhile, Dorothy Tabron, Flora Ting, Cedric Shackleton & Gordon Watson. (2015) Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. Molecular Genetics and Metabolism Reports 4, pages 92-98.
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Sara Ciccone & Marco Cappa. (2015) L’iposurrenalismo non autoimmune nel bambino. L'Endocrinologo 16:4, pages 141-149.
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