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A case of Edward’s syndrome with esophageal atresia and meningocele

Year 2011, Volume: 46 Issue: 2, 174 - 176, 01.06.2011
https://doi.org/10.4274/tpa.46.68

Abstract

Acute poststreptococcal glomerulonephritis APSGN is one of the most common causes of hematuria in childhood nbsp; The hematological changes are not typical in APSGN except anemia due to hemodilution and mild hemolysis The concurrent occurence of idiopathic nbsp;thrombocytopenic purpura ITP and APSGN has very rarely been reported In this article due to its rarity we report a 13 year old boy with APSGN who simultaneously developed ITP Turk Arch Ped 2011; 46: 171 3

References

  • Smith DM. Trisomy 18 Syndrome. In: Jones KL ed. Smith’s Recognizable Patterns of Human Malformations. 4th ed. Philadelphia: Saunders, 1988: 16-9.
  • Descartes M, Caroll AJ. Cytogenetics. In: Behrman RE, Kliegman RM, Jenson HB, Stanton BF, (eds). Nelson Textbook of Pediatrics 18th ed. Philadelphia: Saunders, 2007: 510-1.
  • Tekin N, Akşit A, Gürpınar M. Trizomi 18 sendromlu bir olguda unilateral radius aplazisi. Perinatoloji dergisi 2001; 9: 262-4.
  • Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival and recurrence risk. Am J Med Genet 1994; : 175-88.
  • Pant SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomy 18 and 13. Am J Med Genet A 2006; 140:1749-56.
  • Edwards Jh, Harnden Dg, Cameron Ah, Crosse Vm, Wolff Oh. A new trisomic syndrome. Lancet 1960; 1: 787-90.
  • Weber WW. Survival and sex ratio in trisomy 17-18. Am J Hum Genet 1976; 19: 369-77.
  • Bhanumathi B, Neelam AG, Mishro ZA. Trisomy 18 in a 50 year old female. Indian J Hum Genet 2006; 12: 146-7.
  • Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 18 in a defined populations: epidemiological, genetic and prenatal observations. Prenat Diagn 2003; 23: 856-60.
  • Naguib KK, Al-Awadi SA, Bastaki L, et al. Clustering of trisomy in Kuwait: genetic predisposition or environtemal? Ann Saudi Med 1999; 19: 197-200.
  • Gonzales-Zamora JF, Villegas-Alvares F. Esophagial atresia and chromosomal abnormalities in a Mexican children population: descriptive analysis. Cir Pediatr 2005; 18: 196-9.
  • Suranyi A, Bito T, Vojda G, et al. Unusual clinical history of a male infant with Edward’s syndrome. Pathol Oncol Res 2009; : 147-52.
  • Steffensen TS, Opitz JM, Gilbert-Barness E. Congenital perineal hernia in a fetus with trisomy 18. Fetal Pediatr Pathol ; 28: 95-9. Bick D, Markowitz RI, Horwich A. Trisomy 18 associated with ectopia cordis and occipital meningocele. Am J Med Genet ; 30: 805-10. Scorta A, Franceschini P, Pilotti G. [On a case of trisomy 18 with spina bifida and meningocele]. Minerva Ginecol 1966; : 31-6.
  • TTüürrkk PPeedd AArrşş 22001111;; 4466:: 117744--66
  • TTuurrkk AArrcchh PPeedd 22001111;; 4466:: 117744--66
  • Edward’s sendromu/Edward’s syndrome Resim 5. Hastamıza ait 47,XX+18 bozukluğu gösteren karyotip örneği

Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu

Year 2011, Volume: 46 Issue: 2, 174 - 176, 01.06.2011
https://doi.org/10.4274/tpa.46.68

Abstract

Çoğu olgunun ilk yaşta kaybedildiği Edward rsquo;s sendromunda 130 rsquo;dan fazla yapısal bozukluğun görüldüğü bildirilmiştir Sıkça rastlanan bozukluklar ön planda olmadığında tanı daha geç konduğundan nadir görülen bulgular da önem taşımaktadır Edward rsquo;s sendromunda şimdiye kadar özofagus atrezisi ve oksipital meningosel birlikteliği tanımlanmamış olduğundan 1400 gram ağırlığındaki kız hasta sunulmuştur.

References

  • Smith DM. Trisomy 18 Syndrome. In: Jones KL ed. Smith’s Recognizable Patterns of Human Malformations. 4th ed. Philadelphia: Saunders, 1988: 16-9.
  • Descartes M, Caroll AJ. Cytogenetics. In: Behrman RE, Kliegman RM, Jenson HB, Stanton BF, (eds). Nelson Textbook of Pediatrics 18th ed. Philadelphia: Saunders, 2007: 510-1.
  • Tekin N, Akşit A, Gürpınar M. Trizomi 18 sendromlu bir olguda unilateral radius aplazisi. Perinatoloji dergisi 2001; 9: 262-4.
  • Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival and recurrence risk. Am J Med Genet 1994; : 175-88.
  • Pant SJ, Robbins JM, Bird TM, et al. Congenital malformations among liveborn infants with trisomy 18 and 13. Am J Med Genet A 2006; 140:1749-56.
  • Edwards Jh, Harnden Dg, Cameron Ah, Crosse Vm, Wolff Oh. A new trisomic syndrome. Lancet 1960; 1: 787-90.
  • Weber WW. Survival and sex ratio in trisomy 17-18. Am J Hum Genet 1976; 19: 369-77.
  • Bhanumathi B, Neelam AG, Mishro ZA. Trisomy 18 in a 50 year old female. Indian J Hum Genet 2006; 12: 146-7.
  • Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 18 in a defined populations: epidemiological, genetic and prenatal observations. Prenat Diagn 2003; 23: 856-60.
  • Naguib KK, Al-Awadi SA, Bastaki L, et al. Clustering of trisomy in Kuwait: genetic predisposition or environtemal? Ann Saudi Med 1999; 19: 197-200.
  • Gonzales-Zamora JF, Villegas-Alvares F. Esophagial atresia and chromosomal abnormalities in a Mexican children population: descriptive analysis. Cir Pediatr 2005; 18: 196-9.
  • Suranyi A, Bito T, Vojda G, et al. Unusual clinical history of a male infant with Edward’s syndrome. Pathol Oncol Res 2009; : 147-52.
  • Steffensen TS, Opitz JM, Gilbert-Barness E. Congenital perineal hernia in a fetus with trisomy 18. Fetal Pediatr Pathol ; 28: 95-9. Bick D, Markowitz RI, Horwich A. Trisomy 18 associated with ectopia cordis and occipital meningocele. Am J Med Genet ; 30: 805-10. Scorta A, Franceschini P, Pilotti G. [On a case of trisomy 18 with spina bifida and meningocele]. Minerva Ginecol 1966; : 31-6.
  • TTüürrkk PPeedd AArrşş 22001111;; 4466:: 117744--66
  • TTuurrkk AArrcchh PPeedd 22001111;; 4466:: 117744--66
  • Edward’s sendromu/Edward’s syndrome Resim 5. Hastamıza ait 47,XX+18 bozukluğu gösteren karyotip örneği
There are 16 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Report
Authors

Selvi Gülaşı This is me

Ali Haydar Turhan This is me

Yalçın Çelik This is me

Etem Akbaş This is me

Aytuğ Atıcı This is me

Publication Date June 1, 2011
Published in Issue Year 2011 Volume: 46 Issue: 2

Cite

APA Gülaşı, S., Turhan, A. H., Çelik, Y., Akbaş, E., et al. (2011). Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu. Türk Pediatri Arşivi, 46(2), 174-176. https://doi.org/10.4274/tpa.46.68
AMA Gülaşı S, Turhan AH, Çelik Y, Akbaş E, Atıcı A. Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu. Türk Pediatri Arşivi. June 2011;46(2):174-176. doi:10.4274/tpa.46.68
Chicago Gülaşı, Selvi, Ali Haydar Turhan, Yalçın Çelik, Etem Akbaş, and Aytuğ Atıcı. “Özofagus Atrezisi Ve Meningosel birlikteliği Olan Edward’s Sendromu Olgusu”. Türk Pediatri Arşivi 46, no. 2 (June 2011): 174-76. https://doi.org/10.4274/tpa.46.68.
EndNote Gülaşı S, Turhan AH, Çelik Y, Akbaş E, Atıcı A (June 1, 2011) Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu. Türk Pediatri Arşivi 46 2 174–176.
IEEE S. Gülaşı, A. H. Turhan, Y. Çelik, E. Akbaş, and A. Atıcı, “Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu”, Türk Pediatri Arşivi, vol. 46, no. 2, pp. 174–176, 2011, doi: 10.4274/tpa.46.68.
ISNAD Gülaşı, Selvi et al. “Özofagus Atrezisi Ve Meningosel birlikteliği Olan Edward’s Sendromu Olgusu”. Türk Pediatri Arşivi 46/2 (June 2011), 174-176. https://doi.org/10.4274/tpa.46.68.
JAMA Gülaşı S, Turhan AH, Çelik Y, Akbaş E, Atıcı A. Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu. Türk Pediatri Arşivi. 2011;46:174–176.
MLA Gülaşı, Selvi et al. “Özofagus Atrezisi Ve Meningosel birlikteliği Olan Edward’s Sendromu Olgusu”. Türk Pediatri Arşivi, vol. 46, no. 2, 2011, pp. 174-6, doi:10.4274/tpa.46.68.
Vancouver Gülaşı S, Turhan AH, Çelik Y, Akbaş E, Atıcı A. Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu. Türk Pediatri Arşivi. 2011;46(2):174-6.