Journal of Obstetrics and Gynaecology

ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20

Pentalogy of Cantrell: Diagnosis in the first

trimester

P. Sarkar, J. Bastin, D. Katoch & A. Pal

To cite this article: P. Sarkar, J. Bastin, D. Katoch & A. Pal (2005) Pentalogy of Cantrell: Diagnosis
in the first trimester, Journal of Obstetrics and Gynaecology, 25:8, 812-813

To link to this article: http://dx.doi.org/10.1080/01443610500335795

Published online: 02 Jul 2009.

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 812 Obstetric case reports
Pentalogy of Cantrell: Diagnosis in the first trimester
P. SARKAR1, J. BASTIN1, D. KATOCH1, & A. PAL2
Department of Obstetrics and Gynaecology, 1Wexham Park Hospital, Slough, UK, and 2Ealing Hospital, Southall, UK
Introduction
The five anomalies classically ascribed to Pentalogy of Cantrell
are midline supra-umbilical abdominal wall defect, and those of
the pericardium, sternum, diaphragm and displacement of the
heart. This complex abnormality probably arises from failure of
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ventromedial migration of paired mesodermal structures. The
transverse septum that gives rise to the diaphragm is thought to
undergo impaired formation, with defects affecting the anterior
diaphragm, the upper abdominal wall from the umbilicus to the
epigastrium extending into the lower sternum and the adjacent
structures, in varying combinations. There are frequent associa-
tions with other anomalies including craniofacial, cardiovascular
and vertebral. Most published reports are in the second
trimester, and this case demonstrates the feasibility of early
diagnosis of this uncommon complex malformation.
Case report
A 24-year-old Caucasian woman in her first pregnancy attended
for a routine nuchal scan for Down syndrome at 12 weeks’
menstrual age. Initial findings of fetal hydrops and omphalocele
by the sonographer led to a more detailed, high resolution
evaluation, when multiple abnormalities were noted including
a large omphalocele, exteriorisation of the heart through
diaphragmatic and anterior abdominal wall defects, marked
kyphoscoliosis, and marked nuchal oedema tending to hydrops
(Figure 1). The crown-rump length of 39 mm, measured after
adding straight segments of the fetal trunk, corresponding to
Figure 1. Marked spinal curvature and ectopia cordis.
10 weeks was smaller than expected for menstrual age, and the
head appeared small without the frontal prominence. This
combination of features raised the diagnosis of a variant of
Pentalogy of Cantrell. Chorionic villus sampling reported normal
karyotype. The parents requested a further scan and consultation
a week later, which confirmed the findings of the previous scan
with development of an additional feature, Arnold–Chiari
malformation, now noticeable in the posterior fossa. Parents
were counselled about the severity of the association of the
lesions and the consequential poor prognosis; termination of the
pregnancy was requested by the parents and carried out;
pathological examination of the fetus was discussed and offered,
but declined.
Discussion
The case illustrates the feasibility of early diagnosis of this
unusual complex combination of anomalies. Many other asso-
ciated abnormalities have been variously described including those
of the face, cranium, spine and hands. Karyotypic abnormality is
not a usual feature, although abnormalities of 18 and 13 have been
described (Fox et al. 1988). On review of the literature, there are
more reports of variants of Pentalogy of Cantrell than of the
classical pentad.
Although five anomalies have classically constituted Cantrell’s
pentad (Cantrell et al. 1958), it is tempting to speculate that a
single primary defect in the embryological process gives rise to
defective morphogenesis involving some or all of the midline
developmental field (Carmi and Boughman 1992). In stage 11 of

embryogenesis, fusion begins from the rhombencephalon rostrally
towards the mesencephalon, and it is the failure of ventromedial
migration of the paired mesenchymal structures that generates the
defect of the upper abdominal wall, the anterior diaphragm,
the sternum, and the pericardium. The features of the pentad have
variably been described as part of the spectrum of ventral midline
defects involving diaphragmatic and ventral hernias, and serves to
reinforce the observation that certain associations of midline
defects tend to occur together and are defined by various named
associations and syndromes.
The pentad is usually sporadic in occurrence, and although
known to affect sibships, has not been reported in a pedigree.
Thoraco-abdominal syndrome (TAS) affecting the ventral thorax
and abdomen is thought to have X-linked dominant inheritance
(Carmi et al. 1990) and although the phenotypic features of
the pentad are not dissimilar to TAS, the variance in the
inheritance pattern keeps the two as separate entities. Associa-
tions with multicystic dysplastic kidneys (Pollio et al. 2003),
limb defects (Pivnick et al. 1998, Uygur et al. 2004) and
even with intact diaphragm (Song and McLeary 2000) have
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been variously described. Although instances of survival
after surgery are found in the paediatric literature, fetal
diagnoses have invariably been associated with fatality (Ghidini
et al. 1988).
Our case demonstrates the feasibility of diagnosis in the first
trimester. Although the menstrual age in this case was 12 weeks,
the fetal biometry corresponded only to just over 10 weeks,
reflecting early onset growth restriction. The crown rump length
was measured in two segments and summed to minimise the effect
of kyphoscoliosis, and we believe that the shortened biometry
reflects true intrinsic growth restriction. To our knowledge there is
only one previous report of diagnosis at 10 weeks (Liang et al.
1997).
The pentalogy and its variants have great phenotypic similarities
to the spectrum of TAS and we are strongly tempted to speculate
that at least patho-embryologically, the pentad be considered a
subgroup of thoraco-abdominal syndrome.
Correspondence: P. Sarkar, Consultant Obstetrician, Department of Obstetrics and Gynaecology, Wexham Park Hospital, Wexham Street,
Wexham, Slough SL2 4HL, UK. Tel: þ44 (0) 175 363 3377. Fax: þ44 (0) 175 363 4525. E-mail: pampasarkar@aol.com
DOI: 10.1080/01443610500335795
An unusual case involving a tear in the uterosacral ligament
following a prolonged second stage of labour
A. RAUF, S. TAHSEEN, & S. D. JENKINSON
Department of Obstetrics and Gynaecology, Alexandra Hospital, Redditch, West Midlands, UK
Introduction
Uterine rupture is one of the most feared obstetric complications,
carrying an increased risk of maternal and perinatal morbidity and
mortality (Turner 2002). Most of the cases occur in women with
scarred uteri, often secondary to previous caesarean sections,
salpingectomy with corneal resection, and less commonly to
placenta increta, congenital abnormalities, trauma and sacculation
of entrapped retroverted uterus. In most studies, obstructed labour
is the major cause of spontaneous uterine rupture followed by
inappropriate use of oxytocin, sometimes in an attempt to overcome
the obstruction (Ekele et al. 2000; Ola and Olamijulo 1998).
Obstetric case reports 813
References
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congenital defects involving the abdominal wall, sternum,
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Carmi R, Barbash A, Mares AJ. 1990. The thoracoabdominal
syndrome (TAS): a new X-linked dominant disorder. American
Journal of Medical Genetics 36:109 – 114.
Carmi R, Boughman JA. 1992. Pentalogy of Cantrell and
associated midline anomalies: a possible ventral midline
developmental field. American Journal of Medical Genetics
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Fox JE, Gloster ES, Mirchandani R. 1988. Trisomy 18 with
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We present an extremely rare case of rupture of the left uterosacral
ligament in a primigravida with no predisposing factors. We did not
find any similar case in the literature.
Case report
A nulliparous patient, aged 28 years, with an uncomplicated
antenatal period was admitted at 40 þ 8 to the labour ward with a
history of contractions for 5 h. On examination, her cervix was
4 cm dilated with a cephalic presentation at station 73 cm and the
membranes were intact. She progressed rapidly to full dilatation in