CHARGE syndrome in a neonate with esophageal atresia

VernacularTitle:合并食管闭锁的新生儿CHARGE综合征1例
Author: Yanfen PENG ¹ ; Junjian LYU ; Tulian LIN ; Qiuming HE ; Chao HOU
Author Information

1. 广州市妇女儿童医疗中心新生儿外科监护室，广州　510623
Keywords: CHARGE syndrome; Esophageal atresia; Infant, newborn
From: Chinese Journal of Perinatal Medicine 2022;25(12):965-967
CountryChina
Language:Chinese
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.