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Updated: Jun 15, 2026

Surgical Correction for Pediatric Epiblepharon and Trichiasis
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Complete ectopia cordis with anencephaly: a case report.

Seema Chopra1, Arun Kalpdev, Vanita Suri

  • 1Department of Obstetrics & Gynecology, Postgraduate Institute of Medical Education & Research (PGIMER), Sector-12, Chandigarh, India.

Journal of Clinical Ultrasound : JCU
|March 17, 2010
PubMed
Summary

Pentalogy of Cantrell with anencephaly was diagnosed prenatally via ultrasound at 17 weeks gestation. The pregnancy was terminated due to the severe anencephaly, with histopathology confirming the diagnosis.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Developmental Biology

Background:

  • Pentalogy of Cantrell is a rare congenital condition involving defects in the diaphragm, sternum, pericardium, heart, and abdominal wall.
  • Anencephaly is a severe neural tube defect characterized by the absence of a major portion of the brain, skull, and scalp.

Observation:

  • A case of pentalogy of Cantrell was identified.
  • The condition was associated with anencephaly.
  • Diagnosis was made using 2-dimensional sonography at 17 weeks of gestation.

Findings:

  • Prenatal diagnosis of pentalogy of Cantrell with anencephaly was achieved via 2D sonography.
  • Histopathological examination confirmed the sonographic findings.
  • The presence of anencephaly necessitated pregnancy termination.

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03:59

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Implications:

  • This case highlights the importance of early and accurate prenatal diagnosis for complex congenital anomalies.
  • Understanding the co-occurrence of pentalogy of Cantrell and anencephaly aids in genetic counseling and management.
  • Sonographic detection is crucial for identifying these severe developmental defects in utero.