Cantrell et al described a group of 5 congenital defects that is now referred to as the Pentalogy of Cantrell. This is due to an embryologic defect in mesodermal development during the first trimester.
5 defects in the pentalogy:
(1) deficiency of the anterior diaphragm
(2) midline supraumbilical ventral abdominal wall defect, often with omphalocele
(3) defect in the diaphragmatic diaphragm
(4) congenital intracardiac abnormalities
(5) defect of the lower sternum
Toyama proposed a classification to describe variations in these features.
Siles et al described cases with several of the findings but with an intact sternum. They suggested that the designation of incomplete pentalogy could be expanded to include these cases (i.e., defect in lower sternum not be a requirement).
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