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Keywords:

  • Pentalogy of Cantrell;
  • ectopia cordis;
  • anterior diaphragmatic hernia;
  • midline;
  • developmental field;
  • X-linked

Abstract

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.