Yıl 2012,
Cilt: 25 Sayı: 2, 103 - 106, 17.03.2015
Öz
-
Anahtar Kelimeler
Kaynakça
- 1. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development causes by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
- 2. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83:757-63.
- 3. Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR 2009;30:1614-9.
- 4. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98.
- 5. LeMaire SA, Pannu H, Tran-Fadulu, V Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutations. Nat Clin Pract Cardiovasc Med 2007;4:167-71. doi:10.1038/ncpcardio0797
- 6. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006;140:104-8. doi: 10.1002/ajmg.a.31006
- 7. Hecht F, Beals RK. New syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 1972;49:574-9. doi: 10.1542/peds.1972-1800
- 8. Larsen LJ, Schottsstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormalities. J Pediatr 1950;37:574-81. doi: 10.1016/S0022-3476(50)80268-8
- 9. Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics 1983;71:942-6. doi: 10.1542/peds.1983-1844
- 10. Drera B, Ritelli M, Zoppi N, et al. Loeys-Dietz syndrome type l and ll: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis 2009;2:24. doi: 10.1186/1750-1172-4-24
- 11. Engels EA. Epidemiology of thymoma and associated malignancies. J Thorac Oncol 2010;5:260-5. doi: 10.1097/JTO.0b013e3181f1f62d
- 12. Rajan A, Giaccone G. Targeted therapy for advanced thymic tumors. J Thorac Oncol 2010;5:361-4. doi: 10.1097/JTO.0b013e3181f21114
- 13. Onrat ST, Emmiler M, Sivaci Y, Söylemez Z, Ozgöz A, Imirzalioğlu N. A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders. Genet Mol Res 2009;8:426-34.
- 14. Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K. A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. Genet Couns 2010;21:225-32.
Yıl 2012,
Cilt: 25 Sayı: 2, 103 - 106, 17.03.2015
Öz
Loeys-Dietz sendromu kardiovasküler, kraniofasiyal ve iskelet sisteminin tutulduğu nadir bir otozomal dominant hastalıktır. Esas etyoloji, transforming growth faktör beta-reseptör tip 1 ve 2 genlerindeki mutasyonlardır. Günümüzde, Loeys-Dietz sendromu kraniofasiyal bulguların varlığına göre iki alt gruba ayrılmıştır. Aort genişlemesi olan hastalar diseksiyon ve rüptür açısından risk taşırlar. Sonuçta, tanıdaki gecikme kötü prognoz ile sonuçlanabilir. Timomanın eşlik ettiği ve LoeysDietz tip 1 sendromu tanısı konulan yeni bir vakayı sunduk. Ayrıca, vaka sunumu literatürde bir tümörün eşlik ettiği ilk Loeys-Dietz sendromudur.
Anahtar Kelimeler
Loeys-Dietz sendromu Timoma Aort kökü anevrizması Aort dilatasyonu
Kaynakça
- 1. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development causes by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
- 2. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83:757-63.
- 3. Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR 2009;30:1614-9.
- 4. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98.
- 5. LeMaire SA, Pannu H, Tran-Fadulu, V Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutations. Nat Clin Pract Cardiovasc Med 2007;4:167-71. doi:10.1038/ncpcardio0797
- 6. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006;140:104-8. doi: 10.1002/ajmg.a.31006
- 7. Hecht F, Beals RK. New syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 1972;49:574-9. doi: 10.1542/peds.1972-1800
- 8. Larsen LJ, Schottsstaedt ER, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormalities. J Pediatr 1950;37:574-81. doi: 10.1016/S0022-3476(50)80268-8
- 9. Kiel EA, Frias JL, Victorica BE. Cardiovascular manifestations in the Larsen syndrome. Pediatrics 1983;71:942-6. doi: 10.1542/peds.1983-1844
- 10. Drera B, Ritelli M, Zoppi N, et al. Loeys-Dietz syndrome type l and ll: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis 2009;2:24. doi: 10.1186/1750-1172-4-24
- 11. Engels EA. Epidemiology of thymoma and associated malignancies. J Thorac Oncol 2010;5:260-5. doi: 10.1097/JTO.0b013e3181f1f62d
- 12. Rajan A, Giaccone G. Targeted therapy for advanced thymic tumors. J Thorac Oncol 2010;5:361-4. doi: 10.1097/JTO.0b013e3181f21114
- 13. Onrat ST, Emmiler M, Sivaci Y, Söylemez Z, Ozgöz A, Imirzalioğlu N. A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders. Genet Mol Res 2009;8:426-34.
- 14. Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K. A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. Genet Couns 2010;21:225-32.
Toplam 14 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 17 Mart 2015 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 25 Sayı: 2 |