CANTRELL PENTALOJİSİ: OLGU SUNUMU

Öz

Cantrell pentalojisi; supraumbilikal torako-abdominal 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 malformasyondur. Etyopatogenezi tam olarak bilinmese de gebeliğin erken haftalarında lateral mezodermin migrasyonundaki yetersizliğe ya da eksikliğe bağlı olduğu düşünülmektedir. Migrasyon yetersizliğindeki defekte ve oluştuğu gestasyonel haftadaki değişikliğe bağlı olarak, yukarıda sayılan beş ana fenotipik bulgu her zaman görülmeyebilir. Cantrell pentalojisi, kendi arasında görülen fenotipik özelliklere göre üç sınıfa ayrılır. Bu olgu sunumunda kistik higroma, ektopia kordis, atrioventriküler septal defekt ve omfalosel nedeniyle sevk edilen ve Cantrell pentalojisi tanısı konulan 13 haftalık bir gebelik tarif edilmiştir. 

Anahtar Kelimeler

• Cantrell pentalojisi,ektopia kordis,abdominal duvar defekti,kistik higroma

CANTRELL’S PENTALOGY: A CASE REPORT

Öz

Cantrell’s pentalogy is a rare congenital malformation which consists of the supraumbilical abdominal 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 pericardium, 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 phenotypic findings of Cantrell’s pentalogy may not always be present in the affected cases because of the alterations in the migration defects. The subjects diagnosed with Cantrell’s pentalogy can be examined in three categories based on the phenotypic features. 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, omphalocele and atrioventricular septal defect.

Anahtar Kelimeler

• Cantrell’s pentalogy,ectopia cordis,abdominal wall defects,cystic hygroma

Kaynakça

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