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Thread: Pentalogy of Cantrell - The patient was a 28-year-old G2P0, with dates confirmed by a 12-week sonogr

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    Thumbs up Pentalogy of Cantrell - The patient was a 28-year-old G2P0, with dates confirmed by a 12-week sonogr

    Case report

    The patient was a 28-year-old G2P0, with dates confirmed by a 12-week sonogram. She presented for a level II ultrasound exam at 19 weeks gestation secondary to an elevated maternal serum alpha-fetoprotein of 2.8 multiples of the mean. Ultrasound examination revealed no abnormalities.

    She declined amniocentesis. Repeat sonogram at 22 and 29 weeks again showed no abnormalities, but at 29 weeks gestation umbilical artery Doppler S/D ratios were elevated at 5.1.

    She returned for ultrasound examination at 31 weeks gestation, and fetal hydrops was discovered, with pleural effusion, pericardial effusion, and ascites. A small ventral wall defect was identified at the cord insertion, with no herniation evident.


    Full details:

    [HIDE] - Pentalogy of Cantrell -Sabrina D. Craigo, MD, Martin S. Gillieson, MD, Curtis L. Cetrulo, MD



    Pentalogy of Cantrell

    Definition: The complete syndrome is characterized by two major defects: ectopia cordis and an abdominal wall defect (most commonly an omphalocele, but gastroschisis can also be present). The other three defects of the pentalogy are disruption of all the interposing structures: the distal sternum, anterior diaphragm and diaphragmatic pericardium. Incomplete expressions have also been reported.

    Prevalence: Very rare. Less than 90 cases have been reported in the literature, and even fewer have had the complete syndrome confirmed.

    Etiology: Unknown. Sometimes associated with chromosomal abnormalities.

    Pathogenesis: Postulated developmental failure of a segment of the mesoderm between 14 and 18 days after conception.

    Associated anomalies: Intracardiac anomalies (i.e., tetralogy of Fallot) are the rule. Others include cranial and facial anomalies, chromosomal abnormalities, clubfeet, malrotation of the colon, hydrocephalus, and anencephaly.

    Differential diagnosis: Isolated thoracic cardiac ectopy, ectopia cordis associated with amniotic band syndrome, body stalk abnormality, isolated omphalocele.

    Prognosis: Survival is variable but uncommon and may depend on the size of the abdominal wall defect, extent of the cardiac defect, and presence of associated anomalies.


    Thoraco-abdominal ectopia cordis, or pentalogy of Cantrell, is a rare congenital syndrome of abdominal wall defect (usually omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities. First described by Cantrell in 1958, the syndrome occurs sporadically, with variable degrees of expression.

    The proposed pathogenesis involves a defect in embryogenesis between 14 and 18 days after conception, when the splanchnic and somatic mesoderm are dividing. Many associated anomalies have been reported in fetuses with Pentalogy of Cantrell, including cranial and facial anomalies, clubfeet, malrotation of the colon, hydrocephalus, and anencephaly. Chromosomal abnormalities have also been associated with the syndrome.

    Prenatal diagnosis by ultrasonography is possible, depending on the size and extent of the defects. We report a case of pentalogy of Cantrell diagnosed at birth in an infant with nonimmune hydrops. A second trimester ultrasound study appeared normal, but a very small omphalocele was diagnosed sonographically in the third trimester.

    Last edited by trimurtulu; 12-29-2008 at 03:12 PM.

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