A case report of ectopia cordis and omphalocele
A 24-year-old, unbooked primigravida delivered spontaneously, a 34-week, male stillborn weighing 1,870 g at Kasturba Hospital, MGIMS, Sevagram. The mother was not suffering from any illness related to pregnancy. There was no history of intake of any teratogens or exposure to unusual environment in antenatal period. The family history was negative for congenital anomalies or genetic abnormalities. There was no history of consanguinity. An anterior thoracoabdominal defect with extrathoracic heart, a cleft sternum, and omphalocele were recognized at birth. The physical examination revealed an exposed heart totally outside of the thoracic cavity without pericardium protection. The abdominal wall defect that caused evisceration of liver, stomach, and the intestines []. Other abnormal features included asymmetrical face with medial epicanthal folds, low set ears, micrognathia, asymmetrical bossing of the skull, and high arched palate. Thorax was small and kyphoscoliosis (thoracolumbar region) of the spine was present. Left sided foot had talipes varus and right foot had valgus deformity. Skeletal survey revealed scoliosis and torsion of the spine. The cranial ultrasound examination was normal. Autopsy confirmed the above skeletal and USG abnormalities. Karyotyping was not done because parents refused to do any genetic testing.