Concomitant Exencephaly and Limb Defects Associated with Pentalogy of Cantrell

Abstract

A woman, aged 42, gravida 5, para 2, presented with a dichorionic twin pregnancy and an abnormal fetus at 16 weeks’ gestation. The parents were non-consanguineous and healthy. The father was aged 46 years. The mother denied any recent infections or exposure to teratogens and had not experienced any assisted reproductive technology. She had two healthy sons and had suffered two spontaneous abortions. There was no family history of congenital malformations or of diabetes mellitus. Amniocentesis revealed a 46,XX karyotype in the abnormal fetus and a 46,XY karyotype in the normal twin. Sonographic examination of the abnormal fetus revealed scoliosis, ectopia cordis, a ventricular septal defect, a large ventral wall defect with protruding heart, liver, spleen and bowel loops, exencephaly, acranium, shortening of the left upper limb, and arthrogryposis of the left wrist and bilateral ankles. The umbilical cord appeared normal, and there was no amniotic band. A diagnosis of pentalogy of Cantrell with exencephaly and limb defects was established. The co-twin was normal. The parents elected to continue the pregnancy. Preterm labor occurred at 32 weeks’ gestation. The 1,760-g normal male co-twin survived, while the 1,098-g abnormal female fetus (Figure) died after delivery. An autopsy confirmed a defect of the lower sternum, a deficiency of the diaphragmatic pericardium, an anterior diaphragmatic hernia, a ventricular septal defect, scoliosis, hypoplasia of the left upper limb, a deficiency of the left thumb, and arthrogryposis of the left wrist and bilateral ankles in the abnormal fetus. Her face, toes and other fingers, except the left thumb, were normal. No amniotic band could be found in the fetus and placenta.