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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Pentalogy of Cantrell
Introduction

Pentalogy of Cantrell is a constellation of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart.

Clinical signs
  • very rare anomaly
  • chromosomal analysis is highly recommended; associations with trisomy 13, 18 and Turner syndrome have been reported
  • associated anomalies include cleft lip and palate, limb anomalies, neural tube defects etc.
  • associated anomalies include:
    • limb anomalies
    • cleft lip and palate
    • neural tube defects etc.
  • The prognosis is dismal. Most of the affected infants are stillborn or die soon after delivery. Survival after surgical correction is limited by pulmonary and thoracic cage hypoplasia.
Macroscopic appearance
  1. a midline, supraumbilical abdominal wall defect (usually ompalocele)
  2. a defect of the lower sternum (clefting, shortening or abscence of the sternum)
  3. a deficiency of the anterior diaphragm
  4. a defect in the diaphragmatic pericardium
  5. intracardiac defects (atrial septal defect and tetralogy of Fallot are common)
Case study
Pentalogie Cantrell
Marta Ježová
History
  • giant omphalocele containing the intestine, liver and heart was detected by prenatal ultrasonography in the 2nd trimestr.
  • karyotype 46XY
  • final diagnosis: Pentalogy of Cantrell
Macroscopic appearance
  • 22-week fetus
  • omphalocele
  • herniated liver, small and large intestine, stomach, heart partially (ectopia cordis)
  • defect in the ventral part of the diaphragm, both diaphramatic cupulae were well formed
  • defect of the pericardium
  • shortening of the sternum
  • Heart defect:
    • persistence of the left superior vena cava draining to the sinus coronarius
    • atrial septal defect (sinus venosus defect)
    • anomalous drainage of the right pulmonary veins into the right atrium
  • pulmonary hypoplasia
Pictures

Fetus with omphalocele: Pentalogy of Cantrell, Macro, autopsy (72744)

Omphalocele: Pentalogy of Cantrell, Macro, autopsy (72745)

The omphalocele contains the liver, intestines, the stomach and the heart: Pentalogy of Cantrell, Macro, autopsy (72746)

Defect of the ventral diaphragm, defect of the pericardium: Pentalogy of Cantrell, Macro, autopsy (72747)

Ultrasound video of the case: Pentalogy of Cantrell, Ultrasound, video (72948)