Malrotation in Silver-Russell Syndrome: a case report.

Cilt: 4 Sayı: 2 2 Haziran 2012
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Malrotation in Silver-Russell Syndrome: a case report.

Abstract

Silver-Russell syndrome (SRS) is a rare, heterogeneous, genetic disorder; characterize by intrauterine and postnatal growth retardation, normal occipital-frontal circumference, body asymmetry and distinctive facial features. 90% of parents of children with SRS complain feeding problems but specific gastro-intestinal diseases have not been recognized as major features. We report a 6 years male child with SRS having malrotation of gut; needs surgery.

Keywords

Kaynakça

  1. Wakeling EL. Silver-Russell syndrome. Arch Dis Child, Published Online First: 24 February 2011. doi:10.1136/adc.2010.190165.
  2. Eggermann T, Gonzalez D, Spengler S, Arslan- Kirchner M, Binder G, Schonherr N. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 2009; 123 (5): e929-e931.
  3. Blissett J, Harris G, Krik J. Feeding problems in Silver- Russell syndrome. Developmental Medicine & Child Neurology 2001; 43: 39-44.
  4. Anderson J, Viskochil D, O’Gorman M, Gonzales C. Gastrointestinal syndrome: A pilot study. Am J Med Genet 2002; 113 (1): 15-19. of Russell-Silver
  5. Saal HM, Pagon RA, Pipin MG. Re-evaluation of Russell-Silver syndrome. J Pediatr 1985; 107 (5): 733- 737.
  6. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007; 92: 3148-54.
  7. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837- 842.
  8. Tubbs RS, Wellons JC, Oakes WJ. Russell-Silver syndrome and tethered spinal cord. Childs Nerv Syst 2004; 20 (7): 473-75.

Ayrıntılar

Birincil Dil

İngilizce

Konular

-

Bölüm

-

Yazarlar

Vijai Upadhyaya Bu kişi benim

Rohan Malik Bu kişi benim

Yayımlanma Tarihi

2 Haziran 2012

Gönderilme Tarihi

29 Aralık 2011

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 1970 Cilt: 4 Sayı: 2

Kaynak Göster

APA
Kumar, B., Upadhyaya, V., & Malik, R. (2012). Malrotation in Silver-Russell Syndrome: a case report. Journal of Pediatric Sciences, 4(2), 1-4. https://doi.org/10.17334/jps.60635
AMA
1.Kumar B, Upadhyaya V, Malik R. Malrotation in Silver-Russell Syndrome: a case report. Journal of Pediatric Sciences. 2012;4(2):1-4. doi:10.17334/jps.60635
Chicago
Kumar, Basant, Vijai Upadhyaya, ve Rohan Malik. 2012. “Malrotation in Silver-Russell Syndrome: a case report”. Journal of Pediatric Sciences 4 (2): 1-4. https://doi.org/10.17334/jps.60635.
EndNote
Kumar B, Upadhyaya V, Malik R (01 Haziran 2012) Malrotation in Silver-Russell Syndrome: a case report. Journal of Pediatric Sciences 4 2 1–4.
IEEE
[1]B. Kumar, V. Upadhyaya, ve R. Malik, “Malrotation in Silver-Russell Syndrome: a case report”., Journal of Pediatric Sciences, c. 4, sy 2, ss. 1–4, Haz. 2012, doi: 10.17334/jps.60635.
ISNAD
Kumar, Basant - Upadhyaya, Vijai - Malik, Rohan. “Malrotation in Silver-Russell Syndrome: a case report”. Journal of Pediatric Sciences 4/2 (01 Haziran 2012): 1-4. https://doi.org/10.17334/jps.60635.
JAMA
1.Kumar B, Upadhyaya V, Malik R. Malrotation in Silver-Russell Syndrome: a case report. Journal of Pediatric Sciences. 2012;4:1–4.
MLA
Kumar, Basant, vd. “Malrotation in Silver-Russell Syndrome: a case report”. Journal of Pediatric Sciences, c. 4, sy 2, Haziran 2012, ss. 1-4, doi:10.17334/jps.60635.
Vancouver
1.Basant Kumar, Vijai Upadhyaya, Rohan Malik. Malrotation in Silver-Russell Syndrome: a case report. Journal of Pediatric Sciences. 01 Haziran 2012;4(2):1-4. doi:10.17334/jps.60635