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

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

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

Case Report

DOI :10.5222/j.child.2012.198 IUP :10.5222/j.child.2012.198 Full Text (PDF)

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

Gonca Sandal, Halime Yücel, Sıtkı Öztaş, Metehan Özen, Ahmet Rıfat Örmeci

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

DOI :10.5222/j.child.2012.198 IUP :10.5222/j.child.2012.198 Full Text (PDF)

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

Gonca Sandal, Halime Yücel, Sıtkı Öztaş, Metehan Özen, Ahmet Rıfat Örmeci

Edwards sendromu olarak bilinen trizomi 18, canlı doğumlarda, Down sendromundan sonra ikinci sıklıkta gözlenen otozom kromozom anomalisidir (1,2). Trizomi 18’li vakalarda postaksiyel polidaktili ve yarık damak-dudak birlikteliği literatürde daha önce tanımlanmadığı için, bu ender birlikteliğin gözlendiği Trizomi 18’li bir yenidoğan sunulmaktadır.

Keywords: Trizomi 18, postaksiyel polidaktili, yarık dudak, yarık damak

References

1. Çakmak A, Kösecik M, Çekin A, Karazeybek AH. Ağır kalp defektli Edward’s sendromu vakası. Genel Tıp Derg 2008;18:39-41. google scholar
2. C C hen EZ , Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011;6:217-91. http://dx.doi.org/10.1371/journal.pone.0021791 PMid:21755002 PMCid:3130771 google scholar
3. Tekin N, Akşit A, Gürpınar M. Trisomi 18 sendromlu bir vakada unilateral radius. Aplazisi Perinatoloji Dergisi 2001; 9:264-6. google scholar
4. E E dwards JH, Harnden DG, Cameron AH. A new trisomic syndrome. Lancet 1960;1:787-9. google scholar
5. L L in HY, Lin SP, Chen YJ, Hung HY, Kao HA, Hsu CH, et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A 2006;140:945-51. http://dx.doi.org/10.1002/ajmg.a.31173 PMid:16528742 google scholar
6. Rasmussen SA, Wong LY, Yang Q, May KM, Friedman 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 google scholar
7. N N iedrist D, Riegel M, Achermann J, Schinzel A. Survival with trisomy 18-data from Switzerland. Am J Med Genet A 2006;140(22):952-9. http://dx.doi.org/10.1002/ajmg.a.31172 PMid:16528741 google scholar
Goc B, Walencka Z, Włoch A, Wojciechowska E, Wiecek-Włodarska D, Krzystolik-Ładzinska J, et al. Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome. J Appl Genet 2006;47:165-70. http://dx.doi.org/10.1007/BF03194617 PMid:16682759 google scholar
9. Taylor AI. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards; syndrome and 27 cases of Patau’s syndrome. J Med Genet 1968;5:227-52. http://dx.doi.org/10.1136/jmg.5.3.227 PMid:5708029 PMCid:1468648 google scholar
10. Hodes ME, Cole J, Palmer CG, Reed T. Clinical experience with trisomies 18 and 13. J Med Genet 1978;15:48-60. http://dx.doi.org/10.1136/jmg.15.1.48 PMid:637922 PMCid:1012823 google scholar
11. Marion RW, Chitayat D, Hutcheon RG, Neidich JA, Zackai EH, Singer LP, Warman M. Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J Pediatr 1988;113:45-8. http://dx.doi.org/10.1016/S0022-3476(88)80526-2 google scholar
12. Jones KL. Smith’s recognizable patterns of human malformation. WB Saunders company, 6th Ed., London, 2006, pp. 13-15. google scholar
13. E E mery AE , Rimoin DL. Principle and practice of Medical Genetics, Churchill Livingstone, 2th Ed. New York, 1990, pp: 258-59. google scholar
14. Goldstein H, Nielsen KG. Rates and survival of individuals 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 google scholar
15. Moyano D, Huggon IC, Allan LD. Fetal echocardiography in 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 google scholar
16. 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;23:856-60. http://dx.doi.org/10.1002/pd.707 PMid:14558033 google scholar
17. Magenis RE, Hecht F, Milham S Jr. Trisomy 13 (D 1) 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 google scholar
18. Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, 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 google scholar
19. Brewer CM, Holloway SH, Stone DH, Carothers AD, Fitzpatrick DR. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 2002;39:e54-6. http://dx.doi.org/10.1136/jmg.39.9.e54 PMid:12205124 PMCid:1735241 google scholar
20. 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 google scholar
21. Baty BJ, Jorde LB, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet 1994;49:189-94. http://dx.doi.org/10.1002/ajmg.1320490205 PMid:7509567 google scholar
22. Miglets AW, Schuller D, Ruppert E, Lim DJ. Trisomy 18: a temporal bone report. Arch Otolaryngol 102:433-7. google scholar
23. Gabrielli S, Piva M, Ghi T, Perolo A, De Santis MS, Bevini 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 google scholar

Citations

Copy and paste a formatted citation or use one of the options to export in your chosen format

EXPORT

APA

Sandal, G., Yücel, H., Öztaş, S., Özen, M., & Örmeci, A.R. (2012). A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate. Journal of Child, 12(4), 198-201. https://doi.org/10.5222/j.child.2012.198

AMA

Sandal G, Yücel H, Öztaş S, Özen M, Örmeci A R. A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate. Journal of Child. 2012;12(4):198-201. https://doi.org/10.5222/j.child.2012.198

ABNT

Sandal, G.; Yücel, H.; Öztaş, S.; Özen, M.; Örmeci, A.R. A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate. Journal of Child, [Publisher Location], v. 12, n. 4, p. 198-201, 2012.

Chicago: Author-Date Style

Sandal, Gonca, and Halime Yücel and Sıtkı Öztaş and Metehan Özen and Ahmet Rıfat Örmeci. 2012. “A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate.” Journal of Child 12, no. 4: 198-201. https://doi.org/10.5222/j.child.2012.198

Chicago: Humanities Style

Sandal, Gonca, and Halime Yücel and Sıtkı Öztaş and Metehan Özen and Ahmet Rıfat Örmeci. “A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate.” Journal of Child 12, no. 4 (Oct. 2024): 198-201. https://doi.org/10.5222/j.child.2012.198

Harvard: Australian Style

Sandal, G & Yücel, H & Öztaş, S & Özen, M & Örmeci, AR 2012, 'A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate', Journal of Child, vol. 12, no. 4, pp. 198-201, viewed 18 Oct. 2024, https://doi.org/10.5222/j.child.2012.198

Harvard: Author-Date Style

Sandal, G. and Yücel, H. and Öztaş, S. and Özen, M. and Örmeci, A.R. (2012) ‘A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate’, Journal of Child, 12(4), pp. 198-201. https://doi.org/10.5222/j.child.2012.198 (18 Oct. 2024).

MLA

Sandal, Gonca, and Halime Yücel and Sıtkı Öztaş and Metehan Özen and Ahmet Rıfat Örmeci. “A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate.” Journal of Child, vol. 12, no. 4, 2012, pp. 198-201. [Database Container], https://doi.org/10.5222/j.child.2012.198

Vancouver

Sandal G, Yücel H, Öztaş S, Özen M, Örmeci AR. A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate. Journal of Child [Internet]. 18 Oct. 2024 [cited 18 Oct. 2024];12(4):198-201. Available from: https://doi.org/10.5222/j.child.2012.198 doi: 10.5222/j.child.2012.198

ISNAD

Sandal, Gonca - Yücel, Halime - Öztaş, Sıtkı - Özen, Metehan - Örmeci, AhmetRıfat. “A Case of Trisomy 18 Presenting with Postaxial Polydactyly and Cleft Lip and Palate”. Journal of Child 12/4 (Oct. 2024): 198-201. https://doi.org/10.5222/j.child.2012.198

Volume 12, Issue 42012, P. 198-201

TIMELINE

First Revision	14.06.2012
Last Revision	07.08.2012
Published Online	07.08.2012

Journal of Child

Case Report

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

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

PDF View

References

Citations

EXPORT

APA

AMA

ABNT

Chicago: Author-Date Style

Chicago: Humanities Style

Harvard: Australian Style

Harvard: Author-Date Style

MLA

Vancouver

ISNAD

TIMELINE

SHARE