Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex

R. A. Martin, C. Cunniff, L. Erickson, K. L. Jones

Research output: Contribution to journalArticle

58 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)839-841
Number of pages3
JournalAmerican journal of medical genetics
Issue number6
StatePublished - Jan 1 1992



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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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