Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Taner Öztürk; Nisa Gül Amuk

doi:10.7126/cumudj.492306

TR EN

Öz

References

1. Smith DW, Lemli L, Opitz JM. A newly recognized syndromeof multiple congenital anomalies. The Journal of pediatrics. 1964;64(2):210-7.
2. Muzzin KB, Harper LF. Smith‐Lemli‐Opitz syndrome: a review, case report and dental implications. Special Care in Dentistry. 2003;23(1):22-7.
3. Opitz JM, Penchaszadeh VB, Holt MC, Spano LM, Smith VL. Smith‐Lemli‐Opitz (RSH) syndrome bibliography: 1964–1993. American Journal of Medical Genetics Part A. 1994;50(4):339-43.
4. Ryan A, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, et al. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. Journal of Medical Genetics. 1998;35(7):558-65.
5. Yu H, Patel SJCg. Recent insights into the Smith–Lemli–Opitz syndrome. 2005;68(5):383-91.
6. Nowaczyk MJ, Irons MB, editors. Smith–Lemli–Opitz syndrome: phenotype, natural history, and epidemiology. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2012: Wiley Online Library.
7. Battaile KP, Steiner RD. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Molecular genetics and metabolism. 2000;71(1):154-62.
8. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New England Journal of Medicine. 1994;330(2):107-13.

9. Bianconi SE, Cross JL, Wassif CA, Porter FDJEoood. Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome. 2015;3(3):267-80.
10. Porter FD, Herman GEJJolr. Malformation syndromes caused by disorders of cholesterol synthesis. 2011;52(1):6-34.
11. Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, et al. Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. American Journal of Medical Genetics Part A. 1987;26(1):45-57.
12. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith‐Lemli‐Opitz syndrome and abnormal cholesterol metabolism. American journal of medical genetics. 1997;68(3):263-9.
13. Kelley RI, Hennekam RC. The smith-lemli-opitz syndrome. Journal of Medical Genetics. 2000;37(5):321-35.
14. Blair HR, Martin J. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. The Journal of pediatrics. 1966;69(3):457-9.
15. Dallaire L. Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. Journal of medical genetics. 1969;6(2):113.
16. Porter FD. Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management. European Journal of Human Genetics. 2008;16(5):535.
17. Antoniades K, Peonidis A, Pehlivanidis C, Kavadia S, Panagiotidis P. Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report. International journal of oral and maxillofacial surgery. 1994;23(6):363-5.
18. Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet J-B, Nguyen T, et al. Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. 2014;165(4):836-41. e1.
19. Gorlin RJ, Pindborg JJ. Syndromes of the head and neck, New York, 1964. McGraw-Hill Book Company, Inc, chaps. 1961;19:51-69.
20. Neyzi O, Günöz H, Furman A, Bundak R, Gökçay G, Darendeliler F. Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çevresi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi. 2008;51(1):1-14.
21. Merrer M, Briard M, Girard S, Mulliez N, Moraine C, Imbert M. Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. Journal of medical genetics. 1988;25(2):88-95.
22. Jayamanne C, Sandamal S, Jayasundara K, Saranavabavananthan M, Mettananda S. Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report. Journal of medical case reports. 2018;12(1):217.
23. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). American journal of medical genetics. 1997;68(3):305-10.
24. Lee RW, McGready J, Conley SK, Yanjanin NM, Nowaczyk MJ, Porter FDJAJoMGPA. Growth charts for individuals with Smith–Lemli–Opitz syndrome. 2012;158(11):2707-13.

Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Case Report

Authors

Taner Öztürk ^*
0000-0003-1670-286X
Türkiye

Nisa Gül Amuk
0000-0002-3752-7100
Türkiye

Publication Date

May 31, 2019

Submission Date

December 5, 2018

Acceptance Date

February 26, 2019

Published in Issue

Year 1970 Volume: 22 Number: 2

DOI

https://doi.org/10.7126/cumudj.492306

IZ

https://izlik.org/JA84EZ87HG

Cite

RIS / Bibtex

EndNote

Öztürk T, Gül Amuk N (May 1, 2019) Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment. Cumhuriyet Dental Journal 22 2 245–250.

Cited By

Inborn errors of metabolism and their impact in paediatric dentistry

Journal of Inherited Metabolic Disease

https://doi.org/10.1002/jimd.12493

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Öz

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Abstract

Keywords

References

Details

Primary Language

Subjects

Journal Section

Authors

Publication Date

Submission Date

Acceptance Date

Published in Issue

DOI

IZ

Cite

Cited By

Inborn errors of metabolism and their impact in paediatric dentistry