CANTRELL PENTALOJİSİ: OLGU SUNUMU

Year 2017, , 162 - 165, 16.10.2017

Efser Öztaş Sibel Özler , Aykan Yücel Dilek Uygur Nuri Danışman

https://doi.org/10.18229/kocatepetip.368703

Abstract

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. 

Keywords

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

CANTRELL’S PENTALOGY: A CASE REPORT

Abstract

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.

Keywords

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

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