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2010-10-21-12 Pentalogy of Cantrell with alobar holoprosencephaly © Manohar www.TheFetus.net

Pentalogy of Cantrell with alobar holoprosencephaly

Sivasamy Manohar, MD., DMRD.

India.  
 
Case report

This is a case of monochorionic diamniotic twin pregnancy in a primigravida who was scanned at our department at 13 weeks of gestation. 
We did not detect any abnormality at first twin, except of the reverse flow in ductus venosus.

The second twin was affected, the ultrasound examination revealed following findings:

  • Pentalogy of Cantrell  with following components:
a)    Large omphalocele with herniating  bowel and stomach, covered by membrane.
b)    Ectopia cordis, bradycardia
c)    Diaphragmatic hernia
d)    Defect of the inferior sternum
  • Alobar holoprosencephaly with orbital hypotelorism and proboscis 
  • Cystic hygroma
  • Hydrops

Images 1,2
: Image 1 shows the sagittal view of the "normal" twin, NT=1.0 mm. Image 2 shows Doppler flow of the ductus venosus, note the reverse flow of the ductus venosus.

 

Images 3,4: Affected twin, image 3 shows frontal view of the fetal face, note hypotelorism, arrows point at the eyes. You can see omphalocele and ectopic heart (*).
Image 4 shows transverse view of the thorax with abdominal wall defect and omphalocele.

 

Images 5,6:
Axial view of the fetal head with monoventricle, fused thalami, proboscis and cystic hygroma.


Images 7,8: Image 7 shows bradycardia of the affected twin. Image 8 shows
3-D image of the twins, affected twin is on the right, you can see abdominal wall with large omphalocele.



Videos 1,2:
Video 1 shows the omphalocele and ectopic heart with bradycardia. Video 2 shows 3-D images of both twins.



Comment

Ectopia cordis is a rare anomaly, incidence is less than 0.1:10.000. Combined finding of holoprosencephaly and ectopia cordis is a very rare finding. We have found only one case with the similar findings, described in the literature [1].

Extracranial midline anomalies are commonly associated with holoprosencephaly (52 %). Associated anomalies usually include meningomyelocele, renal dysplasia, omphalocele, esophageal atresia and heart defects [1].

In our case, the associated anomaly was ectopic heart with other findings consistent with Pentalogy of Cantrell. Possible etiology of Pentalogy of Cantrell is a failure of fusion of lateral folds in thorax with failure of development of transverse septum of diaphragm.

Associated anomalies with Pentalogy of Cantrell are usually cleft lip and palate and encephalocele [2]. Prognosis for isolated Pentalogy of Cantrell depends on the severity of the findings, but it's usually fatal. Prognosis with associated alobar holoprosencephaly is fatal.

References:

1. P.J. Taipale, T. Krista,I. Alafuzof. Prenatal diagnosis of holoprosencephaly and ectopia cordis in a twin at 12 weeks’ gestation. Ultrasound Obstet Gynecol 2003; 21: 198–204.
2. M.D. Rivka Carmi1, Joann A. Boughman.Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field.Pentalogy of Cantrell and associated midline anomalies: A possible ventral midline developmental field. American Journal of Medical Genetics, 1992; 42: 90–95.





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