Harman Patil (Editor)

Pentalogy of Cantrell

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OMIM
  
313850

DiseasesDB
  
32984

Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

It was characterized in 1958.

A locus at Xq25-26 has been described.

Presentation

The syndrome has five characteristic findings:

  • Omphalocele
  • Anterior diaphragmatic hernia
  • Sternal cleft
  • Ectopia cordis
  • Intracardiac defect: either a ventricular septal defect or a diverticulum of the left ventricle.

    • References

    Pentalogy of Cantrell Wikipedia
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