CHARGE综合征研究进展

CHARGE syndrome： a review of the literature

CHARGE综合征是一类累及多器官的罕见先天性缺陷，其表现具有高度多样性。诊断主要依靠临床表现，多学科间协作可以优化治疗方案，提高患者的生活质量。该文就CHARGE综合征的临床特征与诊断、发病机制与遗传学研究和临床治疗及预后进行综述，对全面了解综合征有一定意义。

CHARGE （Coloboma, Heart defects, Atresia of the choanal, Retarded growth and development, Genital abnormalities, Ear anomalies and deafness） syndrome is a combination of multiple congenital abnormality. With the previous data which has been reported, most cases of CHARGE syndrome were liked to heterozygous mutations in the gene CHDT, encoding the CHD （chromodomain helicase DNA binding domain ） member CHD7. Owing to the misleading by common features with other anomaly syndromes and the insufficient CHARGE syndrome, the diagnostic rate of this disease is quite low. In this review authors summarize the recent developments in phenotypic features, diagnosis, aetiology and clinical management of CHARGE syndrome.