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Yıl 2019, , 245 - 250, 31.05.2019

Taner Öztürk , Nisa Gül Amuk

https://doi.org/10.7126/cumudj.492306
Cited By: 1

Öz


Kaynakça

  • 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.

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

Yıl 2019, , 245 - 250, 31.05.2019

Taner Öztürk , Nisa Gül Amuk

https://doi.org/10.7126/cumudj.492306
Cited By: 1

Öz

Smith-Lemli-Opitz syndrome is a rare syndrome with multiple congenital anomalies after birth and characteristic with mental retardation. Hereditary cholesterol diseases are an autosomal recessive form of metabolic disturbances. There are two types: Type I with mild clinical signs (classical form) and Type II with severe clinical signs. The Type I form with a higher chance of survival is more common. There are typical craniofacial findings such as microcephaly, low-set ears, micrognathia, flattened nasal root and bitemporal narrowing. Cleft palate and/or deep palate, enlarged alveolar bones, small-sized tongue and swallowing strength are noticeable mouth-related findings. Patients recover at a certain rate with early medical treatment. Early dental treatments are based on eliminating symptomatic problems. A 3-week-old male patient presented with a deep palate, swallowing difficulty, a problem of nourishment, and SLOS Type I was presented.

Anahtar Kelimeler

RSH-SLO Syndrome maxillary diseases alveolar bone palatal Expansion Technique

Kaynakça

  • 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.
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Case Reports
Yazarlar

Taner Öztürk 0000-0003-1670-286X

Nisa Gül Amuk 0000-0002-3752-7100

Yayımlanma Tarihi 31 Mayıs 2019
Gönderilme Tarihi 5 Aralık 2018
Yayımlandığı Sayı Yıl 2019

Kaynak Göster

EndNote Öztürk T, Gül Amuk N (01 Mayıs 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

Cumhuriyet Dental Journal (Cumhuriyet Dent J, CDJ) is the official publication of Cumhuriyet University Faculty of Dentistry. CDJ is an international journal dedicated to the latest advancement of dentistry. The aim of this journal is to provide a platform for scientists and academicians all over the world to promote, share, and discuss various new issues and developments in different areas of dentistry. First issue of the Journal of Cumhuriyet University Faculty of Dentistry was published in 1998. In 2010, journal's name was changed as Cumhuriyet Dental Journal. Journal’s publication language is English.


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