Pentalogy of Cantrell or One of its Variants

Paritosh C. Khanna, MD, DMRE; Alpa Bharati, MD; Suleman A. Merchant, MD, DMRD

Disclosures

October 31, 2005

Diagnosis and Imaging Findings

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.

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 delivered.

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.

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