Yıl 2012,
Cilt: 17 Sayı: 1, 60 - 62, 01.02.2012
Öz
Silver-Russell syndrome is an inherited disease that is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, triangular face, body asymmetry and clinodactyly of the 5th finger, Hypomethylation of the imprinting control region that is localized in chromosomal region 11p15 is responsible for 35-65% of the cases. We present here a case that has phenotypic characteristics of Silver-Russell syndrome and growth hormone deficiency, and a definitive diagnosis made with determination of imprinting control region hypomethylation.
Anahtar Kelimeler
Kaynakça
- Eggermann T, Begemann M, Binder G, Spengler S. Silver- Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis 2010; 23: 5-19.
- Binder G, Seidel AK, Martin DD, et al. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 2008; 93: 1402-1407.
- Netchine I, Rossignol S, Dufourg MN, 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 Metabol 2007; 92: 3148-3154.
- Chatelain PG. Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: analysis of data from the Kabi pharmacia international growth study. International board of the Kabi pharmacia international growth study. Acta Paediatr 1993; 82: 79-81.
- Stanhope R, Albanese A, Azcona C. Growth hormone treatment of Russell-Silver syndrome. Acta Paediatr Scand Suppl 1989; 349: 35-41.
- Rakover Y, Dietsch S, Ambler GR, Chock C, Thomsett M, Cowell CT. Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand growth database. Eur J Pediatr 1996; 155: 851-857.
- Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics 1953; 12: 368- 375.
- Chitayat D, Friedman JM, Anderson L, Dimmick JE. Hepatocellular carcinoma in a child with familial Russell- Silver syndrome. Am J Med Genet 1988; 31: 909-914.
- Dang YN, Shin IC, Gordon RA, Karcioglu ZA. Bilateral reactive lymphoid hyperplasia of the orbit in a child with Russell-Silver syndrome. J AAPOS 2004; 8: 588-591.
- Bliek J, Terhal P, Van den Bogaard MJ, et al. Hypomethylation of the H19 gene causes not only Silver- Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006; 78: 604–614.
- Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005; 37: 1003-1007.
- Gönderilme Tarihi: 05.06.2011
Yıl 2012,
Cilt: 17 Sayı: 1, 60 - 62, 01.02.2012
Öz
Silver-Russell sendromu, intrauterin ve postnatal büyüme geriliği, relatif makrosefali, üçgen yüz, vücut asimetrisi ve el 5. parmakta klinodaktili özelliklerinin görüldüğü bir genetik hastalıktır. Olguların %35-65'inden 11p15 kromozomal bölgesinde lokalize olan imprintlenme kontrol bölgesinin hipometilasyonu sorumludur. Burada, Silver Russell sendromu fenotipik özellikleri ve büyüme hormonu eksikliği bulunan, imprintlenme kontrol bölgesinin hipometilasyonu saptanması ile kesin tanısı konulan hasta sunulmuştur.
Anahtar Kelimeler
Kaynakça
- Eggermann T, Begemann M, Binder G, Spengler S. Silver- Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis 2010; 23: 5-19.
- Binder G, Seidel AK, Martin DD, et al. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 2008; 93: 1402-1407.
- Netchine I, Rossignol S, Dufourg MN, 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 Metabol 2007; 92: 3148-3154.
- Chatelain PG. Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: analysis of data from the Kabi pharmacia international growth study. International board of the Kabi pharmacia international growth study. Acta Paediatr 1993; 82: 79-81.
- Stanhope R, Albanese A, Azcona C. Growth hormone treatment of Russell-Silver syndrome. Acta Paediatr Scand Suppl 1989; 349: 35-41.
- Rakover Y, Dietsch S, Ambler GR, Chock C, Thomsett M, Cowell CT. Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand growth database. Eur J Pediatr 1996; 155: 851-857.
- Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics 1953; 12: 368- 375.
- Chitayat D, Friedman JM, Anderson L, Dimmick JE. Hepatocellular carcinoma in a child with familial Russell- Silver syndrome. Am J Med Genet 1988; 31: 909-914.
- Dang YN, Shin IC, Gordon RA, Karcioglu ZA. Bilateral reactive lymphoid hyperplasia of the orbit in a child with Russell-Silver syndrome. J AAPOS 2004; 8: 588-591.
- Bliek J, Terhal P, Van den Bogaard MJ, et al. Hypomethylation of the H19 gene causes not only Silver- Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006; 78: 604–614.
- Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005; 37: 1003-1007.
- Gönderilme Tarihi: 05.06.2011
Toplam 12 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Şubat 2012 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 17 Sayı: 1 |