Yıl 2012,
Cilt: 4 Sayı: 2, 1 - 4, 02.06.2012
Öz
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.
Anahtar Kelimeler
Silver-Russell syndrome; Malrotation; Gastrointestinal problems.
Kaynakça
- Wakeling EL. Silver-Russell syndrome. Arch Dis Child, Published Online First: 24 February 2011. doi:10.1136/adc.2010.190165.
- 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.
- Blissett J, Harris G, Krik J. Feeding problems in Silver- Russell syndrome. Developmental Medicine & Child Neurology 2001; 43: 39-44.
- 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
- Saal HM, Pagon RA, Pipin MG. Re-evaluation of Russell-Silver syndrome. J Pediatr 1985; 107 (5): 733- 737.
- 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.
- 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.
- Tubbs RS, Wellons JC, Oakes WJ. Russell-Silver syndrome and tethered spinal cord. Childs Nerv Syst 2004; 20 (7): 473-75.
- Weiss GR, Garnick MB. Testicular cancer in a Russell- Silver dwarf. J Urol 1981; 126 (6): 836-37.
- Draznin MB, Stelling MW, Johanson AJ. Silver- Russell syndrome and craniopharyngioma. J Pediatr 1980; 96 (5): 887-89.
Yıl 2012,
Cilt: 4 Sayı: 2, 1 - 4, 02.06.2012
Öz
Kaynakça
- Wakeling EL. Silver-Russell syndrome. Arch Dis Child, Published Online First: 24 February 2011. doi:10.1136/adc.2010.190165.
- 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.
- Blissett J, Harris G, Krik J. Feeding problems in Silver- Russell syndrome. Developmental Medicine & Child Neurology 2001; 43: 39-44.
- 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
- Saal HM, Pagon RA, Pipin MG. Re-evaluation of Russell-Silver syndrome. J Pediatr 1985; 107 (5): 733- 737.
- 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.
- 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.
- Tubbs RS, Wellons JC, Oakes WJ. Russell-Silver syndrome and tethered spinal cord. Childs Nerv Syst 2004; 20 (7): 473-75.
- Weiss GR, Garnick MB. Testicular cancer in a Russell- Silver dwarf. J Urol 1981; 126 (6): 836-37.
- Draznin MB, Stelling MW, Johanson AJ. Silver- Russell syndrome and craniopharyngioma. J Pediatr 1980; 96 (5): 887-89.
Toplam 10 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Case Reports |
| Yazarlar | |
| Yayımlanma Tarihi | 2 Haziran 2012 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 4 Sayı: 2 |