Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1

Hayrullah Alp; Fatih Şap; Hakan Altın; Zehra Karataş; Tamer Baysal; Sevim Karaaslan; Sevgi Pekcan

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Year 2012, Volume: 25 Issue: 2, 103 - 106, 17.03.2015

Hayrullah Alp , Fatih Şap Hakan Altın Zehra Karataş Tamer Baysal Sevim Karaaslan Sevgi Pekcan

Abstract

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Keywords

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References

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.

Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1

Year 2012, Volume: 25 Issue: 2, 103 - 106, 17.03.2015

Hayrullah Alp , Fatih Şap Hakan Altın Zehra Karataş Tamer Baysal Sevim Karaaslan Sevgi Pekcan

Abstract

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.

Keywords

Loeys-Dietz sendromu, Timoma, Aort kökü anevrizması, Aort dilatasyonu

References

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.

There are 14 citations in total.

Details

Primary Language	Turkish
Journal Section	Case Reports
Authors	Hayrullah Alp Fatih Şap This is me Hakan Altın This is me Zehra Karataş This is me Tamer Baysal This is me Sevim Karaaslan This is me Sevgi Pekcan This is me
Publication Date	March 17, 2015
Published in Issue	Year 2012 Volume: 25 Issue: 2

Cite

APA	Alp, H., Şap, F., Altın, H., Karataş, Z., et al. (2015). Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1. Marmara Medical Journal, 25(2), 103-106.
AMA	Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S, Pekcan S. Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1. Marmara Med J. August 2015;25(2):103-106.
Chicago	Alp, Hayrullah, Fatih Şap, Hakan Altın, Zehra Karataş, Tamer Baysal, Sevim Karaaslan, and Sevgi Pekcan. “Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1”. Marmara Medical Journal 25, no. 2 (August 2015): 103-6.
EndNote	Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S, Pekcan S (August 1, 2015) Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1. Marmara Medical Journal 25 2 103–106.
IEEE	H. Alp, F. Şap, H. Altın, Z. Karataş, T. Baysal, S. Karaaslan, and S. Pekcan, “Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1”, Marmara Med J, vol. 25, no. 2, pp. 103–106, 2015.
ISNAD	Alp, Hayrullah et al. “Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1”. Marmara Medical Journal 25/2 (August 2015), 103-106.
JAMA	Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S, Pekcan S. Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1. Marmara Med J. 2015;25:103–106.
MLA	Alp, Hayrullah et al. “Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1”. Marmara Medical Journal, vol. 25, no. 2, 2015, pp. 103-6.
Vancouver	Alp H, Şap F, Altın H, Karataş Z, Baysal T, Karaaslan S, Pekcan S. Timomanın Eşlik Ettiği Loeys-Dietz Sendromu Tip 1. Marmara Med J. 2015;25(2):103-6.