CANTRELL PENTALOJİSİ: OLGU SUNUMU

Cantrell pentalojisi; supraumbilikal torako-abdomi-nal duvar defekti, diyafram ön kısmının olmaması, perikardın diyaframla ilişkili parçasının olmaması, sternum alt bölgesinde defekt ve kalp anomalileri ile tanımlanan, nadir görülen ve postnatal dönemde mortalite oranı yüksek seyreden bir doğumsal mal-formasyondur. Etyopatogenezi tam olarak bilinme-se de gebeliğin erken haftalarında lateral mezoder-min migrasyonundaki yetersizliğe ya da eksikliğe bağlı olduğu düşünülmektedir. Migrasyon yetersiz-liğindeki defekte ve oluştuğu gestasyonel haftada-ki değişikliğe bağlı olarak, yukarıda sayılan beş ana fenotipik bulgu her zaman görülmeyebilir. Cantrell pentalojisi, kendi arasında görülen fenotipik özellik-lere göre üç sınıfa ayrılır. Bu olgu sunumunda kistik higroma, ektopia kordis, atrioventriküler septal de-fekt ve omfalosel nedeniyle sevk edilen ve Cantrell pentalojisi tanısı konulan 13 haftalık bir gebelik tarif edilmiştir.

CANTRELL’S PENTALOGY: A CASE REPORT

Cantrell’s pentalogy is a rare congenital malforma-tion which consists of the supraumbilical abdomi-nal wall defect, the defect in the lower sternum, the agenesis of the anterior portion of the diaphragm, the absence of the diaphragmatic part of the peri-cardium, and the structural cardiac anomaly. This congenital malformation has a high mortality rate of in the postnatal period. Its etiopathogenesis is not yet certain. It is thought to be due to the lack or inadequacy of the migration of lateral mesoderm in the early weeks of pregnancy. Five main phenoty-pic findings of Cantrell’s pentalogy may not always be present in the affected cases because of the al-terations in the migration defects. The subjects di-agnosed with Cantrell’s pentalogy can be examined in three categories based on the phenotypic featu-res. This is a case report of a 13-week-old pregnancy which is diagnosed with Cantrell’s pentalogy due to the presence of cystic hygroma, ectopia cordis, om-phalocele and atrioventricular septal defect.

Kaynakça

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