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

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

Keywords

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Özofagus atrezisi ve meningosel birlikteliği olan Edward’s sendromu olgusu

Öz

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.

Anahtar Kelimeler

• Meningosel
• özofagus atrezisi
• trizomi 18
• yenidoğan

Kaynakça

1. Smith DM. Trisomy 18 Syndrome. In: Jones KL ed. Smith’s Recognizable Patterns of Human Malformations. 4th ed. Philadelphia: Saunders, 1988: 16-9.
2. 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.
3. Tekin N, Akşit A, Gürpınar M. Trizomi 18 sendromlu bir olguda unilateral radius aplazisi. Perinatoloji dergisi 2001; 9: 262-4.
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.
5. 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.
6. Edwards Jh, Harnden Dg, Cameron Ah, Crosse Vm, Wolff Oh. A new trisomic syndrome. Lancet 1960; 1: 787-90.
7. Weber WW. Survival and sex ratio in trisomy 17-18. Am J Hum Genet 1976; 19: 369-77.
8. Bhanumathi B, Neelam AG, Mishro ZA. Trisomy 18 in a 50 year old female. Indian J Hum Genet 2006; 12: 146-7.

9. 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.
10. 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.
11. Gonzales-Zamora JF, Villegas-Alvares F. Esophagial atresia and chromosomal abnormalities in a Mexican children population: descriptive analysis. Cir Pediatr 2005; 18: 196-9.
12. 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.
13. 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.
14. TTüürrkk PPeedd AArrşş 22001111;; 4466:: 117744--66
15. TTuurrkk AArrcchh PPeedd 22001111;; 4466:: 117744--66
16. Edward’s sendromu/Edward’s syndrome Resim 5. Hastamıza ait 47,XX+18 bozukluğu gösteren karyotip örneği