Abstract

Introduction: Pentalogy of cantrell is a rare syndrome of unknown etiology characterized by multiple structural congenital anomalies. case report: We aimed to present an early diagnosed case of pentalogy of cantrell accompanied by craniorachischisis. conclusion: Pentalogy of cantrell can be diagnosed with a careful ultrasonography in the first trimester. Potential side effects of pregnancy termination to the mother can be reduced by the early diagnose of the disease.

Highlights

  • Pentalogy of Cantrell is a rare syndrome of unknown etiology characterized by multiple structural congenital anomalies

  • Case Report: We aimed to present an early diagnosed case of pentalogy of Cantrell accompanied by craniorachischisis

  • Pentalogy of Cantrell is a rare syndrome defined by Cantrell et al in 1958

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Summary

Introduction

Pentalogy of Cantrell is a rare syndrome of unknown etiology characterized by multiple structural congenital anomalies. Case Report: We aimed to present an early diagnosed case of pentalogy of Cantrell accompanied by craniorachischisis. We aimed to present a case of pentalogy of Cantrell accompanied by craniorachischisis. With these available ultrasonographic findings the diagnosis of Pentalogy of Cantrell was established and the pregnancy was terminated with the consent of mother and father. By the postmortem examination fetal omphalocele (Figure 1b2), ectopia cordis and diaphragmatic hernia was detected. In addition to these findings, we observed an exencephaly continuing with spinal dysraphism as additional anomaly (craniorachischisis) (Figure 1a2).

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