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Smith-Magenis Sendrom’lu Bir Olgu

Year 2018, Volume: 7 Issue: 2, 63 - 65, 01.10.2018

Zeynep Esener İbrahim Tekedereli

Abstract

Smith-Magenis senromu SMS fasiyal dismorfizm, gelişim basamaklarında gecikme, bilişsel gerilik, karakteristik davranış paterni ve uyku bozuklukları ile karakterize genetik bir hastalıktır. Bu olgu sunumunda fasiyal dismorfizm, gelişimsel gecikme ve bilişsel gerilik nedeni ile SMS tanısı alan bir olgu sunulmuştur.

Keywords

Smith-Magenis sendromu 17p11.2 delesyon sendromu RAI1

References

  • Potocki L, Shaw CJ, Stankiewicz P, et al. Variability in clinical phenotype despite common chromosomal deletion in Smith- Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003; 5(6): 430-4.
  • Edelman EA, Girirajan S, Finucane B, et al. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet 2007; 71(6): 540-50.
  • Vilboux T, Ciccone C, Blancato JK, et al. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith- Magenis syndrome without the 17p11.2 deletion. PLoS One 2011; 6(8): e22861.
  • Greenberg F, Guzzetta V, Montes de Oca-Luna R, et al. Molecular analysis of the Smith- Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991; 49(6): 1207-18.
  • Williams SR, Zies D, Mullegama SV, et al. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet 2012; 90(6): 941-9.
  • Laje G, Bernert R, Morse R, et al. Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome. Am J Med Genet C Semin Med Genet 2010; 154C(4): 463-8.
  • De Leersnyder H, De Blois MC, Claustrat B, et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001; 139(1): 111-6.
  • De Leersnyder H, Bresson JL, de Blois MC, et al. "Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome." J Med Genet 2003; 40(1): 74-8.
  • Zori RT, Lupski JR, Heju Z, et al. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 1993; 47(4): 504-11.

A Case of Smith-Magenis Syndrome

Year 2018, Volume: 7 Issue: 2, 63 - 65, 01.10.2018

Zeynep Esener İbrahim Tekedereli

Abstract

Smith-Magenis syndrome is a genetic disorder characterized by facial dysmorphism, developmental delay, cognitive retardation, characteristic behavior pattern and sleep disturbance. In this study we report a Smith Magenis Syndrome patient with facial dysmorphism, developmental delay and cognitive retardation.

Keywords

Smith-Magenis syndrome 17p11.2 deletion syndrome RAI1

References

  • Potocki L, Shaw CJ, Stankiewicz P, et al. Variability in clinical phenotype despite common chromosomal deletion in Smith- Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003; 5(6): 430-4.
  • Edelman EA, Girirajan S, Finucane B, et al. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet 2007; 71(6): 540-50.
  • Vilboux T, Ciccone C, Blancato JK, et al. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith- Magenis syndrome without the 17p11.2 deletion. PLoS One 2011; 6(8): e22861.
  • Greenberg F, Guzzetta V, Montes de Oca-Luna R, et al. Molecular analysis of the Smith- Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991; 49(6): 1207-18.
  • Williams SR, Zies D, Mullegama SV, et al. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet 2012; 90(6): 941-9.
  • Laje G, Bernert R, Morse R, et al. Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome. Am J Med Genet C Semin Med Genet 2010; 154C(4): 463-8.
  • De Leersnyder H, De Blois MC, Claustrat B, et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001; 139(1): 111-6.
  • De Leersnyder H, Bresson JL, de Blois MC, et al. "Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome." J Med Genet 2003; 40(1): 74-8.
  • Zori RT, Lupski JR, Heju Z, et al. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 1993; 47(4): 504-11.
There are 9 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

Zeynep Esener This is me

İbrahim Tekedereli This is me

Publication Date October 1, 2018
Published in Issue Year 2018 Volume: 7 Issue: 2

Cite

APA Esener, Z., & Tekedereli, İ. (2018). Smith-Magenis Sendrom’lu Bir Olgu. Annals of Health Sciences Research, 7(2), 63-65.
AMA Esener Z, Tekedereli İ. Smith-Magenis Sendrom’lu Bir Olgu. Ann Health Sci Res. October 2018;7(2):63-65.
Chicago Esener, Zeynep, and İbrahim Tekedereli. “Smith-Magenis Sendrom’lu Bir Olgu”. Annals of Health Sciences Research 7, no. 2 (October 2018): 63-65.
EndNote Esener Z, Tekedereli İ (October 1, 2018) Smith-Magenis Sendrom’lu Bir Olgu. Annals of Health Sciences Research 7 2 63–65.
IEEE Z. Esener and İ. Tekedereli, “Smith-Magenis Sendrom’lu Bir Olgu”, Ann Health Sci Res, vol. 7, no. 2, pp. 63–65, 2018.
ISNAD Esener, Zeynep - Tekedereli, İbrahim. “Smith-Magenis Sendrom’lu Bir Olgu”. Annals of Health Sciences Research 7/2 (October 2018), 63-65.
JAMA Esener Z, Tekedereli İ. Smith-Magenis Sendrom’lu Bir Olgu. Ann Health Sci Res. 2018;7:63–65.
MLA Esener, Zeynep and İbrahim Tekedereli. “Smith-Magenis Sendrom’lu Bir Olgu”. Annals of Health Sciences Research, vol. 7, no. 2, 2018, pp. 63-65.
Vancouver Esener Z, Tekedereli İ. Smith-Magenis Sendrom’lu Bir Olgu. Ann Health Sci Res. 2018;7(2):63-5.