Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex.
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.
Martin
R A
RA
Department of Pediatrics, University of California, San Diego.
Cunniff
C
C
Erickson
L
L
Jones
K L
KL
D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D014960:X Chromosome