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.