title: Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation.
abstract: Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical abdominal wall defects, defects in the diaphragmatic pericardium, and congenital heart disease. The authors report a 12-weeks gestation with multiple fetal anomalies suggesting the diagnosis of CP (a large thoraco-abdominal defect with herniating liver and bowel, heart deviated anteriorly with concomitant ventricular septal defect), and the 'S' shaped fetal spine due to increased lumbar lordosis and scoliosis with accompanying pes equinovarus deformity. Chorionic villus sampling was performed due to increased nuchal translucency (3.7 mm). The fetal karotype was found to be 47, XX,+21 (trisomy 21). In the literature, three scoliosis cases have been reported accompanying the CP along with multiple anomalies and one concomitant pes equinovarus deformity has been reported previously.
authors.forename: A Tazegül
authors.initials: AT
authors.lastname: Pekin
authors.forename: O Seçilmiş
authors.initials: OS
authors.lastname: Kerimoğlu
authors.forename: S A
authors.initials: SA
authors.lastname: Yilmaz
authors.forename: A G
authors.initials: AG
authors.lastname: Kebapcilar
authors.forename: B Gencoğlu
authors.initials: BG
authors.lastname: Bakbak
authors.forename: C
authors.initials: C
authors.lastname: Celik
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000028:Abortion, Induced; D015193:Chorionic Villi Sampling; D003025:Clubfoot / Q000175:diagnosis*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D058502:Pentalogy of Cantrell / Q000175:diagnosis*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012600:Scoliosis / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal; D055815:Young Adult