We
report a case of Cantrell’s Pentalogy detected by ultrasonography
at 24 weeks of gestation and confirmed by autopsy.
Cantrell’s Pentalogy consists of defects of the lower sternum, anterior
diaphragm, midline supraumbilical abdominal wall and diaphragmatic pericardium
with ectopia cordis. Our case showed all these defects along with a midline
cleft lip and cleft palate. Association of cleft lip and cleft palate
with Pentalogy of Cantrell may represent an extension of the basic defect
in the migration of mesodermal primordial structures that involve the
abdominal and thoracic midline fusion defects of the syndrome to also
involve the facial structures, which must therefore be thoroughly looked
for in all such cases. |
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Introduction
In 1958, Cantrell et al described a syndrome in which a ventral (anterior)
diaphragmatic hernia occurred in association with an omphalocoele. 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. |
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Fig. 1 : Transverse scan of the foetus depicting herniated thoracic
(H = heart) and abdominal (liver and bowel, single arrow) contents.
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CASE
REPORT
A twenty-eight year old primigravida presented for routine prenatal
ultrasonographic scanning at twenty-four weeks of gestation. The
foetus was noted to have a midline umbilical wall defect with
a herniated sac containing the liver and bowel (Fig. 1) and the
umbilical cord being inserted at the apex of the sac suggestive
of an omphalocoele, a sternal defect with ectopia cordis (Fig.
1), scoliosis and club-foot. The head of the foetus was hyperextended
and the face was seen touching the anterior wall of the uterus
thus making the evaluation of the face difficult. Labour was induced
spontaneously and a male gestation weighing 500 gms was delivered.
Autopsy findings revealed an omphalocoele with herniation of the
bowel and liver, a midline sternal defect with ectopia cordis,
a right-sided club-foot, scoliosis and midline cleft lip (Fig.
2) and cleft palate. |
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Fig. 2 : Foetus with omphalocoele with herniated liver and bowel,
ectopia cordis, club-foot, and bilateral cleft lip. The foetus also
had a cleft palate. |
DISCUSSION
In 1958, Cantrell et al1 described a syndrome in which a ventral
(anterior) diaphragmatic hernia occurred in association with an
omphalocoele. This syndrome was called the Pentalogy of Cantrell.
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 development
field complex that includes the Pentalogy of Cantrell and ectopia
cordis. Ectopia cordis (extra-thoracic heart) is a rare malformation
at the most severe end of a spectrum of anterior body wall defects
involving sternal fusion abnormalities.3
This spectrum of defects is more appropriately categorized as
a midline developmental field complex and as such is causally
heterogeneous.4
Variants of the Pentalogy of Cantrell have been described by Toyama.
He suggested the following classification for the Pentalogy of
Cantrell :
A) diagnosis certain, all five defects present; B) diagnosis probable,
four defects (including intracardiac and ventral abdominal wall)
are present; and C) incomplete, variable combinations of defects
present (always including a sternal abnormality).2
The embryologic defects responsible for the variety of abnormalities
present in the Pentalogy of Cantrell are of mesodermal origin.
The sternal and abdominal wall defects represent faulty migration
of these mesodermal primordial structures. It is thought that
these developmental abnormalities occur around day 14-18 of embryonic
life.5
In our case where there was associated midline cleft lip and 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 foetus.
Many other associations have been found with Pentalogy of Cantrell,
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which
include 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 upto 50 to 75% of cases presenting
with omphalocoeles and thus it is an indicator for antenatal invasive
foetal testing.7,8 Omphalocoele should be considered pathological
only if it persists beyond 14 weeks or 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 till term and the
foetus delivered by induction of labour. |
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CONCLUSION
We conclude that Pentalogy of Cantrell is a spectrum of congenital anomalies,
from fatal to nonfatal, which must therefore be adequately evaluated antenatally
for appropriate prenatal counselling and postnatal management of the individual
cases. |
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REFERENCES
1. 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 : 602-14.
2. Toyama WM. Combined congenital defects of the anterior abdominal wall,
sternum, diaphragm, pericardium and heart : a case report and review of
the syndrome. Pediatrics 1972; 50 : 778-92.
3. Rick A Martin, Christopher Cunniff, Lars Erickson, Kenneth Lyons Jones.
Pentalogy of Cantrell and ectopia cordis, a
familial developmental field complex. Am J Med Genetics 1992; 42 : 839-41.
4. Baker ME, Rosenberg ER, Trofatter TF, Imber MJ, Bowie JD. The in-utero
findings in twin Pentalogy of Cantrell. J
Ultrasound Med 1984; 3 : 525-27.
5. Siles C, Boyd PA, Manning N, Tsang T, Chamberlain P. Omphalocele and
pericardial effusion: possible sonographic
markers for the Pentalogy of Cantrell or its variants. Obstet Gynecol
1996;87(2):840-42.
6. Harshad R Shah, 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.
7. Benaceraff VR, Saltzman DH, Esteroff JA, Frigoleto FD Jr. Abnormal
karyotype of fetuses with Omphalocele:
prediction based on omphalocele contents. Obstet Gynecol 1990; 75 : 371-76.
8. Gilbert WM, Nicolaides KH. Fetal omphalocoele : associated malformations
and chromosomal defects. Obstet Gynecol 1987; 70 : 633-35.
9. Merchant SA. Sonoembryology. A review. Bombay Hosp J 1994; 36 : 20-26.
10. Cyr DR, Mack LA, Schoenecker SA, et al. Bowel migration |
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DEVELOPMENT
OF STANDARD TREATMENT PROTOCOL FOR SARS
‘[Patients] were treated according to a treatment protocol
consisting of antibacterials and a combination of ribavirinand
methylprednisolone’
The rapid spread of severe acute respiratory syndrome (SARS) has
meant that there has been little time to investigate the most
effective treatment regimen. Loletta K-Y So and colleagues drew
on their experience in the first 11 patients (one index case and
ten linked cases) to create a treatment protocol with standard
dose regimens, which they tested in the 20 further patients who
had probable SARS. No patient died expect the index case, who
was treated late. The investigators conclude that, in patients
with probable or suspected SARS, antibacterials and a combination
of ribavirin and pulsedmethylprednisolone started early can be
effective.
Lancet, Inf Dis, 2003; 3 : 1615. |
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