CHARGE syndrome in a neonate

VernacularTitle:新生儿CHARGE综合征1例
Author: Bo GAO ¹ ; Shu XIAO ; Xiao-Wen CHEN ; Ru LI ; Ling WANG
Author Information

1. 广州医科大学附属妇女儿童医疗中心新生儿中心,广东广州 510623
Keywords: CHARGE syndrome; CHD7 gene; Pierre-Robin syndrome; Neonate
From: Chinese Journal of Contemporary Pediatrics 2024;26(11):1238-1244
CountryChina
Language:Chinese
Abstract: A female infant,aged 11 days,was admitted due to dyspnea for 11 days after birth,with the main clinical manifestations of inspiratory dyspnea,feeding difficulties,and unusual facies (micrognathia,high palatal arch,cleft palate,glossoptosis,and oblique mouth to the right),and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted ventilation,nutrition,and surgical ligation of patent ductus arteriosus. Whole-exome sequencing of the family showed a heterozygous mutation of c.3082A>G (p.Ile1028 Val) in the CHD7 gene,which was a pathogenic mutation of CHARGE syndrome. The neonate was ultimately diagnosed with CHARGE syndrome,and the family decided to withdraw treatment due to concerns about poor prognosis. This article reports a case of CHARGE syndrome caused by a mutation in the CHD7 gene and the multidisciplinary diagnosis and treatment of this disease,in order to provide help for early disease identification and guide clinical decision-making.