Pentalogy of Cantrell or one of its variants
On ultrasound, the
24-week-gestational-age fetus was noted to have a midline umbilical
wall defect with a herniated sac containing the liver and bowel
(Figure 1A) with the umbilical cord attached at the apex of the
sac, which was suggestive of an omphalocele. The ultrasonographic
examination also revealed a sternal defect with ectopia cordis,
scoliosis, and clubfoot. The head of the fetus was hyperextended,
and the face was seen touching the anterior wall of the uterus,
thus making the evaluation of the face difficult. The patient had
been notified of the prognosis of her fetus' condition and was
offered various options, but she chose to continue her pregnancy
until labor occurred naturally.
Labor occurred spontaneously and a stillborn male weighing 1500
g was delivered at 32 weeks of gestation, 8 weeks after the
prenatal ultrasound examination. Autopsy findings (Figure 1B)
revealed an omphalocele with herniation of the bowel and liver, a
midline sternal defect with ectopia cordis, a right-sided clubfoot,
scoliosis, a bilateral cleft lip, and a midline cleft palate.
Autopsy features thus confirmed the sonographic features and
revealed a cleft palate, which had not been detected on sonography
because the head of the fetus was hyperextended.
Case 2. The routine prenatal
ultrasonogram showed that this 25.5-week gestational fetus was
alive and had an omphalocele containing herniated bowel and liver
(Figure 2) and a sternal defect with ectopia cordis. The fetus'
prognosis and treatment options were explained to the patient. She
chose to have labor induced. Three days after the ultrasound
examination, a male stillborn neonate weighing 700 g was
Autopsy findings revealed an omphalocele with herniation of the
bowel and liver and a midline sternal defect with ectopia cordis.
Autopsy features thus confirmed the sonographic features in this
second case as well. This fetus did not have associated cleft lip
or palate, and there was no evidence of clubfoot.
In both of these cases, imaging and autopsy findings of midline
supraumbilical abdominal wall defects, defects in the pericardium,
and defects of the lower sternum clearly indicate a diagnosis of
pentalogy of Cantrell or one of its variants.
In 1958, Cantrell et al1 described a syndrome in
which a ventral (anterior) diaphragmatic hernia occurred in
association with an omphalocele. This syndrome, called the
pentalogy of Cantrell, consists of the following: A deficiency of
the anterior diaphragm, a midline supraumbilical abdominal wall
defect, a defect in the diaphragmatic pericardium, congenital
intracardiac abnormalities, and a defect of the lower sternum. Few
variants of this syndrome have been described.1,2
The association of sternal fusion defects with various cardiac,
diaphragmatic, and anterior body wall defects represents a
continuum of developmental anomalies that includes the pentalogy of
Cantrell and ectopia cordis. Ectopia cordis (extrathoracic heart)
is a rare malformation at the most severe end of the spectrum of
anterior body wall defects involving sternal fusion
This spectrum of defects is more appropriately categorized as a
"midline developmental field complex" and, as such, is causally
heterogeneous. Evidence for this heterogeneity is suggested by the
occasional occurrence of this complex in chromosomal and other
multiple malformation syndromes.4
Variants of the pentalogy of Cantrell have been described by
Toyama.2 The following classification for the pentalogy
of Cantrell was suggested:
- (A) Diagnosis certain if all 5 defects are present;
- (B) Diagnosis probable if 4 defects (including intracardiac and
ventral abdominal wall) are present; and
- (C) Diagnosis is incomplete if variable combinations of defects
are present (always including a sternal
The embryologic defects responsible for the variety of
abnormalities present in the pentalogy of Cantrell are of
mesodermal origin. The diaphragmatic and pericardial defects are
closely related to either the total or partial failure of septum
transversum development, whereas the cardiac abnormalities result
from the faulty development of the epimyocardium. The sternal and
abdominal wall defects represent faulty migration of these
mesodermal primordial structures. It is thought that these
developmental abnormalities occur from approximately day 14 to 18
of embryonic life.5 The failure of this process is
believed to occur because of one or more of the following:
- Vascular dysplasias resulting in vascular steal phenomena.
- Mechanical teratogenesis by amnion rupture, tearing, and
adhering; tissue band adherence causing pressure necrosis and
incomplete morphogenesis; or mechanical compression secondary to
rupture of the chorion or the yolk sac.
3. Genetic mutation, either idiopathic or due to viral infection
in the early first trimester or drugs given to the
mother.6 In the first case reported here, which included
associated bilateral cleft lip and a midline cleft palate, we
believe that this anomaly was due to a migration defect in the
primordial mesoderm of the face, which accompanied the ventral body
wall defects in the fetus.
Many other associations have been found with pentalogy of
Cantrell, which include the following: Amniotic band syndrome with
limb anomalies, structural cardiac defects with pericardial
effusion, exencephaly, cystic hygroma, infraumbilical defects with
cloacal and bladder exstrophy, and bilateral inguinal hernias.
Concurrent structural and/or chromosomal abnormalities may
complicate up to 50% to 75% of cases presenting with omphaloceles
and, thus, they are indicators for antenatal invasive
testing.7,8 Omphalocele should be considered pathologic
only if it persists beyond 14 weeks or if its maximum diameter
exceeds 1 cm in the first trimester of pregnancy.9,10
Few cases have been reported in which the pregnancy was continued
until term and the fetus delivered by induction of labor. A number
of corrective surgeries have been performed on such neonates for
correction of defects, after which normal growth was achieved by
the age of 2 to 3 years.
Pentalogy of Cantrell is a spectrum of congenital anomalies,
from fatal to nonfatal, that must therefore be adequately evaluated
for appropriate prenatal counseling and postnatal management of
- Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital
defects involving the abdominal wall, sternum, diaphragm,
pericardium and heart. Surg Gynecol Obstet. 1958;107:602-614.
- Toyama WM. Combined congenital defects of the anterior
abdominal wall, sternum, diaphragm, pericardium and heart: A case
report and review of the syndrome. Pediatrics.
- Martin RA, Cunniff C, Erickson L, Jones KL. Pentalogy of
Cantrell and ectopia cordis, a familial developmental field
complex. Am J Med Genet.1992;42:839-841.
- Baker ME, Rosenberg ER, Trofatter TF, et al. The in utero
findings in twin pentalogy of Cantrell. J Ultrasound
- Siles C, Boyd PA, Manning N, et al. Omphalocele and pericardial
effusion: Possible sonographic markers for the pentalogy of
Cantrell or its variants. Obstet Gynecol. 1996;87(5 Pt
- Shah HR, Patwa PC, Pandya JB, et al. Antenatal ultrasound
diagnosis of a case of 'Pentalogy of Cantrell' with common cardiac
chambers: Case report. Ind J Radiol Imag. 2000;10:99-101.
- Benacerraff VR, Saltzman DH, Estroff JA, Frigoletto FD Jr.
Abnormal karyotype of fetuses with omphalocele: Prediction based on
omphalocele contents. Obstet Gynecol. 1990;75(3 Pt 1):317-319.
- Gilbert WM, Nicolaides KH. Fetal omphalocele: Associated
malformations and chromosomal defects. Obstet
- Cullinan JA, Nyberg DA. Fetal abdominal wall defects. In:
Rumack CM, Wilson SR, Charboneau JW, eds. Diagnostic Ultrasound.
2nd ed. St. Louis, MO: Mosby-Year Book, Inc.; 1998:1167-1169.
- Cyr DR, Mack LA, Schoenecker SA, et al. Bowel migration in the
normal fetus: US detection. Radiology.1986;161:119-121.
Prepared by Paritosh C. Khanna, MD, DMRE; Alpa Bharati, MD;
and Suleman A. Merchant, MD, DMRD, Department of Radiology, LTMG
Hospital, Sion, Mumbai, India.