2- Case History/examination
A male newborn of Togolese descent was referred for polymalformation, presenting symptoms evident three hours after birth. The infant was born to a 25-year-old mother and a 31-year-old father, both unrelated. During the pregnancy, the G1P0 (para 0) mother had undergone three antenatal visits starting from the 22nd week of amenorrhea. She received two doses of tetanus vaccine, along with three doses of intermittent preventive treatment using sulfadoxine-pyrimethamine. Iron and folic acid supplementation was administered, and she adhered to sleeping under a long-lasting mosquito net. At 12 weeks’ gestation, she was treated for malaria with artemether injection. Anemia with a hemoglobin level of 8.6 g/dl normocytic (81fl) hypochromic (23 pg) was detected at 25 weeks’ gestation, with Entamoeba histolytica cysts found in the stool. At 28 weeks’ gestation, she took amoxicillin for an infectious syndrome. An obstetric ultrasound performed at 26 weeks + 3 days was interpreted as normal. Viral serologies were not conducted. The parents of the newborn did not engage in behaviors involving toxic substances such as alcohol and tobacco, and there were no reported incidents during the pregnancy. Additionally, there were no known family defects. The pregnancy continued to term 36 weeks +3 days, with a vaginal delivery occurring on March 15, 2021. Three hours after the delivery the newborn was admitted. Notably, the newborn did not cry immediately after birth.
Upon admission, the newborn’s weight was recorded at 2100 g, while measurements for height and head circumference were not taken. The recorded temperature was 36.2°C. The infant exhibited signs of respiratory distress, perioral cyanosis, and a respiratory rate of 68 cycles per minute, with oxygen saturation at 70% on room air. A significant suprasternal depression was observed on each inspiration due to the absence of the sternum, as depicted in Figure 1 (a) and (b). A striking observation was the visible pulsating movements of the heart emerging from the chest, beating and seemingly jumping on the chest, as captured in Video 1. Further examination revealed full hair coverage on the skull. Additionally, the infant displayed left microphthalmia, hypertelorism, and an aperture at the internal angle of the right eye, as shown in Figure (b) (d). The root of the nose appeared flattened or collapsed (Figure (d)), and the ears were poorly formed, displaying a low-set and badly hemmed configuration. Notably, a unilateral right cleft lip and palate were present, as depicted in figure (a) (e).
The physical examination revealed a significant anterior mid-thoracoabdominal defect measuring 10 x 7 cm, from which the heart emerged, leading to an ectopia cordis (Figure (c)). The visible heartbeat indicated the exposed position of the heart. The heart was displaced due to the absence of the diaphragmatic pericardium. Notably, there was a complete absence of the sternum. The heart appeared incompletely segmented. A membrane, attributed to diaphragmatic hypoplasia, was attached to the heart, allowing visualization of the liver in the peritoneum. Beyond a border of skin, the umbilical cord followed. The skin connecting the defect to the organs exhibited hyperpigmentation around the defect, presenting an appearance of skin atrophy. The umbilical cord was ascended (highly implanted) and almost in an epigastric position. Axillary placement of the left nipple was observed, while the right nipple was not visible. The abdomen appeared flat, depressed, and empty, with an increased volume of the thorax. Additionally, bilateral cryptorchidism was noted (Figure (e)).
The infant exhibited moderate hypotonia, while the rest of the examination revealed no abnormalities in the extremities.