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Complete Pentalogy of Cantrell with craniorachischisis: a case report
Prajnya Ranganath1, Mandakini Pradhan
1Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
Background:
Pentalogy of Cantrell is a rare malformation syndrome consisting of a specific combination of ventral midline defects, uncommonly found to be associated with other anomalies.
Case:
We report a case of complete Pentalogy of Cantrell with craniorachischisis diagnosed in-utero at 19 weeks of gestation through antenatal ultrasonography. Fetal autopsy following termination of the pregnancy confirmed the presence of the sonographically detected malformations and also revealed associated transposition of great vessels (TGV) in the fetus.
Conclusion:
Co-occurrence of such ventral and dorsal midline defects suggests the possibility that common genetic and environmental factors influence the early stages of development of the ventral as well as dorsal embryonic midline.
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