Öz
Rubinstein-Taybi
syndrome (RSTS) is a rare genetic disorder, characterized by distinctive facial
features, short stature, moderate
to severe intellectual disability, and broad
thumbs and first toes. It is important to establish an early diagnosis for
these patients in order to ascertain accurate solutions for the
problems they face in the early
stages of life. In this report, we present a case with a late diagnosis
of RSTS.
Anahtar Kelimeler
Rubinstein-Taybi syndrome Developmental Disability Early Diagnosis
Kaynakça
- Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews® (Internet). In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 1993-2015. 2002 Aug 30 (updated 2014 Aug 07). (PMID: 20301699)
- Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Rubinstein-Taybi syndrome in The Netherlands. Am J Med Genet Suppl. 1990b; 6: 17–29.
- Stevens CA, Pouncey J, Knowles D. Adults with Rubinstein-Taybi syndrome. Am J Med Genet. 2011; 155A: 1680–4.
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005; 76: 572–80.
- Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005; 117: 485–93.
- Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008; 146A: 2512–9.
- Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein-Taybi syndrome. Am J Med Genet A. 2010a; 152A: 2254–61.
- Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2014; 87(2) :148-54.
- Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003; 119A: 101–10.
Öz
Rubinstein-Taybi Sendromu (RSTS) karakteristik yüz bulguları, kısa boy, orta-ağır entelektüel yetersizlik, geniş el ve ayak başparmakları ile seyreden nadir bir genetik hastalıktır. Hastaların yaşamlarının ilk yıllarında karşılaştıkları problemlere doğru ve daha çözümcül yaklaşılabilmesi için tanının erken konulabilmesi oldukça önemlidir. Bu yazıda geç tanılı RSTS’li bir olgu sunulmaktadır.
Anahtar Kelimeler
Kaynakça
- Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews® (Internet). In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 1993-2015. 2002 Aug 30 (updated 2014 Aug 07). (PMID: 20301699)
- Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Rubinstein-Taybi syndrome in The Netherlands. Am J Med Genet Suppl. 1990b; 6: 17–29.
- Stevens CA, Pouncey J, Knowles D. Adults with Rubinstein-Taybi syndrome. Am J Med Genet. 2011; 155A: 1680–4.
- Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005; 76: 572–80.
- Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005; 117: 485–93.
- Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008; 146A: 2512–9.
- Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein-Taybi syndrome. Am J Med Genet A. 2010a; 152A: 2254–61.
- Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2014; 87(2) :148-54.
- Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003; 119A: 101–10.
Ayrıntılar
| Bölüm | Olgu Sunumu |
|---|---|
| Yazarlar | |
| Yayımlanma Tarihi | 9 Haziran 2017 |
| Yayımlandığı Sayı | Yıl 2017 |