Spot Diagnosis

Umbilical Cord Swelling in a Newborn with Down’s Syndrome

Samet Benli1, Ünal Bakal2, Erdal Taşkin1, Mustafa Aydin1
1Department of Pediatrics-Neonatology, Faculty of Medicine, Firat University, Elazig, Turkey, 2Department of Pediatric Surgery, Faculty of Medicine, Firat University, Elazig, Turkey

Address for Correspondence: Mustafa AYDIN, Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, 23200, Elazig, Turkey.
Keywords : Umbilical cord hernia, Down syndrome, Newborn, Surgery
Question :
A male baby born at 40 weeks of gestation as a fourth live birth from the fourth pregnancy of a 40-year-old mother was admitted to our neonatal intensive care unit (NICU) with a phenotype of Down’s syndrome and respiratory distress. The double marker test performed during the prenatal period showed a high probability of having Down’s syndrome. Physical examination of the neonate revealed upward slanting eyelids, a flattened face, especially the bridge of the nose, low-set small ears, palmar crease, and poor muscle tone with birth weight of 2730 g (3-10th centile), height of 46 cm (25-50th centile), and head circumference of 35 cm (50-75th centile). Along with the normal size of the umbilical ring, the umbilical cord was 2x2 cm in size and had intestinal tissue in it (Figure 1). In addition, except for a 2/6 systolic-diastolic murmur especially at pulmonary area, other systemic findings were normal. Echocardiographic examination revealed atrial septal defect and patent ductus arteriosus. Chromosomal analysis revealed 47 XY, +21 karyotype. The child underwent surgery for the umbilical cord swelling.

Figure 1. Umbilical cord swelling which contains intestinal tissue.

What is the umbilical cord swelling?
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