CHARGE syndrome in a neonate with esophageal atresia / 中华围产医学杂志

ABSTRACT

This article reported a case of neonatal CHARGE syndrome complicated by congenital esophageal atresia. A prenatal ultrasound examination at 30 weeks of gestation revealed polyhydramnios and a small magenblase of the fetus, then fetal MRI suggested congenital esophageal atresia. The infant was born with severe asphyxia at 37 +5 gestational weeks by cesarean section due to placental abruption with a birth weight of 2 310 g. Gastric tube could not be placed after resuscitation. Congenital esophageal atresia complicated by tracheoesophageal fistula was diagnosed by esophageal imaging. Bilateral choanal atresia was detected by electronic nasopharyngoscopy and MRI. Moreover, skull defect, suspected meningocele were also observed. CHARGE syndrome was confirmed by whole exome sequencing, revealing a frameshift deletion of c.2155delA (p.Thr719GlnfsTer9) in the CHD7 gene. The infant died after withdrawing treatment.