Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

Abstract

Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb.

Cantrell Pentaloji̇si̇: Olgu Sunumu

“…Bahsedilen olguların dördü yaşamın ilk yılında kaybedilmiştir (8). Çakıroğlu ve arkadaşları, gestasyonel yaşı 12 3/7 hafta ile uyumlu ikiz gebelikte, bir fetusta üst ekstremite yokluğu, kifoskolyoz, ektopia kordis, karaciğeri ve bağırsakları içeren omfalosel ile tanımlanan Cantrell Pentolojisi bulunduğunu ve diğer fetusun ise normal olduğunu rapor etmiştir (9). Cantrell pentalojisi, kalıtsal bazı sendromlar ile birliktelik gösterebilir.…”

Diagnosis of Pentalogy of Cantrell in the First Trimester Using Transvaginal Sonography and Color Doppler

“…Intracardiac and various other anomalies like central nervous system and craniofacial abnormalities, polysplenia, and gall bladder agenesis have also been reported in association with this syndrome [ 14 ]. A case of Cantrell syndrome associated with the agenesis of fetal limb in a twin pregnancy has been reported recently [ 15 ].…”

Coincidence of Incomplete Pentalogy of Cantrell and Meningomyelocele in a Dizygotic Twin Pregnancy

“…Sternal malformations include bifid sternum, absent xiphoid, short sternum, and defective formation of the lower two-thirds [ 9 ]. Differential diagnosis of midline defects includes POC, limp body walk complex, body stalk anomaly, and amniotic band syndrome [ 10 ]. Also, craniofacial (e.g., cleft lip and palate) and central nervous system (e.g., hydrocephalus) anomalies, limb defects (e.g., clubfoot, tibia, and radius agenesis), and intra-abdominal anomalies (e.g., polysplenia and gallbladder agenesis) are the other associated anomalies.…”