关键词: CHARGE综合征, CHD7基因, 器官畸形, 诊断

Abstract: Clinical data of 4 patients with CHARGE syndrome who were treated in Guangdong Provincial People's Hospital from May 2018 to July 2020 were collected， and their clinical and genetic characteristics were analyzed. The results showed that all 4 patients had shortness of breath， feeding difficulties， growth retardation and heart malformation； 3 had laryngeal malacia; 3 had bronchial stenosis; 3 had lateral ventricular dilatation; 2 had sensorineural hearing loss; 2 had auricle deformity; 2 patients’ normal structure of the visual papilla disappeared; 1 also had cleft palate. The pathogenic heterozygous mutation of CHD7 gene was detected in all 4 cases， and no mutation was found in their parents. The follow-up showed that 2 cases had swallowing function and motor development improved after rehabilitation treatment； 2 cases died after discharge due to multiple deformities and severe illness. Therefore， it is believed that for children with congenital heart malformation combined with eye， nose and ear malformation， growth retardation and feeding difficulties， it is necessary to be alert to CHARGE syndrome and complete genetic testing in time in order to achieve early diagnosis and early intervention and improve prognosis.

Key words: CHARGE syndrome, CHD7 gene, organ malformation, diagnosis