A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant
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Case Report
P: 123-127
June 2009

A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

Turk J Obstet Gynecol 2009;6(2):123-127
1. Kahramanmaras Sutcu Imam University, Faculty Of Medicine, Obstetrics And Gynecology, Kahramanmaras
2. Intergen Genetic Disease Diagnostic Center, Ankara
3. Kahramanmaras Goverment Hospital, Obstetrics And Gynecology, Kahramanmaras
No information available.
No information available
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ABSTRACT

CONCLUSION:

It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

CASE:

Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings.

AIM:

The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect.

Keywords:
Pentalogy of Cantrell, Encephalocele, Pregnancy, Prenatal Diagnosis, Ultrasonography, Postmortem Genetic Evaluation