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首页> 外文期刊>American journal of medical genetics, Part A >CHARGE syndrome in nine patients from China
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CHARGE syndrome in nine patients from China

机译：中国九名患者的电荷综合征

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CHARGE syndrome (CS) is a multiple congenital anomalies condition with the majority of cases caused by dominant loss-of-function mutations of the CHD7 gene. It is clinically characterized by coloboma of the eyes, heart defects, choanal atresia, retardation of growth and/or development, genital and/or urinary anomalies and ear malformations associated with deafness and vestibular disorder(s). This case series reported nine molecularly confirmed Chinese CS patients from nine unrelated families in Hong Kong. Clinical phenotype and facial features of these nine Chinese CS patients together with four previously reported Chinese patients were reviewed. Typical presentations like coloboma and choanal atresia were not universally present. The prevalence of choanal atresia in these Chinese CS patients was found to be significantly lower than that in previous cohorts of other ethnic groups. This report highlighted the existence of phenotypic variation of CS among different ethnicities and suggested that a high index of suspicion is necessary for diagnosis of CS in Chinese patients.
机译：电荷综合征（CS）是一种多重先天性异常条件，其中大多数患者由CHD7基因的主要功能丧失突变引起。它的特征在于眼睛的眼睛，心脏缺损，育雏症，抑结生长和/或发育，生殖器和/或泌尿异常和与耳聋和前庭疾病有关的炎症和耳畸形。本案例系列报告九九是香港九个无关家庭的CS患者。综述了这九九中国CS患者的临床表型和面部特征。典型的介绍等Coloboma和Chooanal Atresia没有普遍存在。发现这些中国CS患者中育雏症的患病率明显低于其他族裔群体的群体。该报告强调了不同种族中CS表型变异的存在，并提出了高度怀疑指标对于诊断中国患者的CS是必要的。

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