Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası

Gonca Sandal; Halime Yücel; Sıtkı Öztaş; Metehan Özen; Ahmet Rifat Örmeci

doi:10.5222/j.child.2012.198

Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası

Year 2012, , 198 - 201, 01.10.2012

Gonca Sandal Halime Yücel Sıtkı Öztaş Metehan Özen Ahmet Rifat Örmeci

https://doi.org/10.5222/j.child.2012.198

Abstract

Edwards sendromu olarak bilinen trizomi 18, canlı doğum- larda, Down sendromundan sonra ikinci sıklıkta gözlenen otozom kromozom anomalisidir 1,2 . Trizomi 18’li vakalar- da postaksiyel polidaktili ve yarık damak-dudak birlikteliği literatürde daha önce tanımlanmadığı için, bu ender birlik- teliğin gözlendiği Trizomi 18’li bir yenidoğan sunulmakta- dır

Keywords

Trizomi 18, postaksiyel polidaktili, yarık dudak, yarık damak

References

JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-84. http://dx.doi.org/10.1542/peds.111.4.777 PMid:12671111 niedrist D, Riegel M, achermann J, Schinzel a. Survival with trisomy 18-data from Switzerland. Am J Med Genet A ;140(22):952-9. http://dx.doi.org/10.1002/ajmg.a.31172 PMid:16528741
Genetics, Churchill Livingstone, 2th Ed. New York, 1990, pp: 59. with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet 1988;34:366-72. http://dx.doi.org/10.1111/j.1399-0004.1988.tb02894.x PMid:3233784 trisomy 18. Arch Dis Child Fetal Neonatal Ed 2005;90: F520-F522. http://dx.doi.org/10.1136/adc.2004.070342 PMid:15914547 PMCid:1721973
Parker MJ, Budd JlS, Draper eS, Young ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diag 2003;23:856- http://dx.doi.org/10.1002/pd.707 PMid:14558033 syndrome: studies on parental age, sex ratio and survival. J Pediatr 1968;73:222-8. http://dx.doi.org/10.1016/S0022-3476(68)80072-1
Tilford JM, aitken Me. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet Part A. 2006;140A:1749-56. http://dx.doi.org/10.1002/ajmg.a.31382 PMid:16835915
Fitzpatrick DR. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet ;39:e54-6. http://dx.doi.org/10.1136/jmg.39.9.e54 PMid:12205124 PMCid:1735241
Tunca Y, Kadandale JS, Pivnick eK. Long-term survival in Patau syndrome. Clin Dysmorph 2001;10:149-50. http://dx.doi.org/10.1097/00019605-200104000-00014 PMid:11310997 tory of trisomy 18 and trisomy 13: II. Psychomotor develop- ment. Am J Med Genet 1994;49:189-94. http://dx.doi.org/10.1002/ajmg.1320490205 PMid:7509567 temporal bone report. Arch Otolaryngol 102:433-7.
M, Bonasoni P, et al. Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. Ultrasound Obstet Gynecol 2009;34:416-8. http://dx.doi.org/10.1002/uog.6451 PMid:19697393

A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate

Year 2012, , 198 - 201, 01.10.2012

Gonca Sandal Halime Yücel Sıtkı Öztaş Metehan Özen Ahmet Rifat Örmeci

https://doi.org/10.5222/j.child.2012.198

Abstract

Trisomy 18, also known as Edwards syndrome, is the second most common autosomal trisomy after Down syndrome in newborns 1,2 . We here report on a newborn with trisomy 18 presenting with postaxial polydactyly and cleft lip-palate since this coexistence has not been reported in literature previously

Keywords

Trisomy 18, postaxial polydactyly, cleft lip, cleft palate

References

JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-84. http://dx.doi.org/10.1542/peds.111.4.777 PMid:12671111 niedrist D, Riegel M, achermann J, Schinzel a. Survival with trisomy 18-data from Switzerland. Am J Med Genet A ;140(22):952-9. http://dx.doi.org/10.1002/ajmg.a.31172 PMid:16528741
Genetics, Churchill Livingstone, 2th Ed. New York, 1990, pp: 59. with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin Genet 1988;34:366-72. http://dx.doi.org/10.1111/j.1399-0004.1988.tb02894.x PMid:3233784 trisomy 18. Arch Dis Child Fetal Neonatal Ed 2005;90: F520-F522. http://dx.doi.org/10.1136/adc.2004.070342 PMid:15914547 PMCid:1721973
Parker MJ, Budd JlS, Draper eS, Young ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diag 2003;23:856- http://dx.doi.org/10.1002/pd.707 PMid:14558033 syndrome: studies on parental age, sex ratio and survival. J Pediatr 1968;73:222-8. http://dx.doi.org/10.1016/S0022-3476(68)80072-1
Tilford JM, aitken Me. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet Part A. 2006;140A:1749-56. http://dx.doi.org/10.1002/ajmg.a.31382 PMid:16835915
Fitzpatrick DR. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet ;39:e54-6. http://dx.doi.org/10.1136/jmg.39.9.e54 PMid:12205124 PMCid:1735241
Tunca Y, Kadandale JS, Pivnick eK. Long-term survival in Patau syndrome. Clin Dysmorph 2001;10:149-50. http://dx.doi.org/10.1097/00019605-200104000-00014 PMid:11310997 tory of trisomy 18 and trisomy 13: II. Psychomotor develop- ment. Am J Med Genet 1994;49:189-94. http://dx.doi.org/10.1002/ajmg.1320490205 PMid:7509567 temporal bone report. Arch Otolaryngol 102:433-7.
M, Bonasoni P, et al. Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies. Ultrasound Obstet Gynecol 2009;34:416-8. http://dx.doi.org/10.1002/uog.6451 PMid:19697393

There are 7 citations in total.

Details

Primary Language	Turkish
Journal Section	Research Articles
Authors	Gonca Sandal This is me Halime Yücel This is me Sıtkı Öztaş This is me Metehan Özen This is me Ahmet Rifat Örmeci This is me
Publication Date	October 1, 2012
Published in Issue	Year 2012

Cite

APA	Sandal, G., Yücel, H., Öztaş, S., Özen, M., et al. (2012). Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası. Çocuk Dergisi, 12(4), 198-201. https://doi.org/10.5222/j.child.2012.198
AMA	Sandal G, Yücel H, Öztaş S, Özen M, Örmeci AR. Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası. Çocuk Dergisi. October 2012;12(4):198-201. doi:10.5222/j.child.2012.198
Chicago	Sandal, Gonca, Halime Yücel, Sıtkı Öztaş, Metehan Özen, and Ahmet Rifat Örmeci. “Postaksiyel Polidaktili Ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası”. Çocuk Dergisi 12, no. 4 (October 2012): 198-201. https://doi.org/10.5222/j.child.2012.198.
EndNote	Sandal G, Yücel H, Öztaş S, Özen M, Örmeci AR (October 1, 2012) Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası. Çocuk Dergisi 12 4 198–201.
IEEE	G. Sandal, H. Yücel, S. Öztaş, M. Özen, and A. R. Örmeci, “Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası”, Çocuk Dergisi, vol. 12, no. 4, pp. 198–201, 2012, doi: 10.5222/j.child.2012.198.
ISNAD	Sandal, Gonca et al. “Postaksiyel Polidaktili Ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası”. Çocuk Dergisi 12/4 (October 2012), 198-201. https://doi.org/10.5222/j.child.2012.198.
JAMA	Sandal G, Yücel H, Öztaş S, Özen M, Örmeci AR. Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası. Çocuk Dergisi. 2012;12:198–201.
MLA	Sandal, Gonca et al. “Postaksiyel Polidaktili Ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası”. Çocuk Dergisi, vol. 12, no. 4, 2012, pp. 198-01, doi:10.5222/j.child.2012.198.
Vancouver	Sandal G, Yücel H, Öztaş S, Özen M, Örmeci AR. Postaksiyel Polidaktili ve Yarık Dudak-Damak Birlikteliği Olan Trizomi 18 Vakası. Çocuk Dergisi. 2012;12(4):198-201.