Year: 2006
Type: conference-abstract
Abstract: We present a case of (variant form) pentalogy of Cantrell associated with absence of cranial vault, craniofacial defect and ventricular septal defect. A 25- year—old G I P I patient was referred after routine dating ultrasound revealed the heart located totally outside the thoracic cavity. The patient had no prenatal care prior to this time and was 18 weeks by dates. The family history was negative for congenital anomalies or genetic abnormalities and the patient denied exposure to drugs or toxins. Our ultrasound examination revealed a single fetus with femur length measurement adequate with 18 weeks gestational age. Multiple congenital anomalies were seen including: thoracic ectopia cordis, (a defect of lower sternum, absent pericardium and an anterior diaphragmatic defect), ventral abdominal wall defect with extrophy of the liver and intestines, absence of cranial vault, unilateral cleft lip and cleft palate. Ventricular septal defect was detected, but the cardiac outflow tracts appeared normal. Amniotic fluid was decreased as well fetal motion. The umbilical cord and placenta were normal in appearance and location. Because it was a malformation incompatible with postnatal life, after counseling, the parents have decided upon therapeutical abortion. The infant was female, dead during abortion. The results of autopsy confirmed pathological findings detected by ultrasound; the placenta and umbilical cord were unremarkable. Parental karyotyping was recommended, but the both were normally. We present this case because pentalogy of Cantrell and exencephaly are very rare conditions, usually occurring as a single anomaly; their association has been reported in one case in the literature. We also discuss the pathologic findings and the differential diagnosis. Our results reveal the possibility of association of Cantrell'pentalogy with other pathological findings.
DOI: 10.1002/uog.3510
Authors: D. P. Pelinescu‐Onciul, M. B. Bari, A. S. Simionescu, A. C. Calomfirescu, R. B. Bohiltea, D. A. Albu
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2053363724