Objective: To discuss a fetus with craniorachischisis diagnosed antenatally and to review the literature. Method: Case report. Results: Craniorachischisis was detected on ultrasound scan in a fetus at gestational week 13. Pregnancy was terminated and diagnosis was verified postnatally. Conclusion: Craniorachischisis is a rare and severe form of neural tube defects (NTDs). The majority of currently known cases of mouse craniorachischisis have been found to result from disturbance of a single molecular signaling cascade, called planar cell polarity pathway (PCP). The mutant genes that have been causative in disturbance of PCP in mouse models have been examined in human malformations but none of them have so far been implicated in human craniorachischisis. To date, no other genes except the gene encoding 5,10-methylenetetrahydrofolate reductase have been specifically implicated in predisposition to NTDs. We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. Further investigations are therefore necessary.

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