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

Am J Med Genet. 1992 Apr 1;42(6):839-41. doi: 10.1002/ajmg.1320420619.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Diaphragm / abnormalities*
  • Female
  • Genetic Linkage*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • X Chromosome*