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单词 CHARGE Association
释义

CHARGE Association

中文百科

CHARGE联合畸形 CHARGE syndrome

(重定向自CHARGE Association)
Coloboma

CHARGE联合畸形是一种同时包括眼器官先天裂开与脑神经缺损、心脏缺损、后鼻孔闭锁、生殖泌尿道系统异常、生长与发育迟缓及耳朵异常及听力丧失。

其发生率为1/10000至1/12000,其中大多数是散发性案例。

遗传方面,其遗传方式为一体染色体显性遗传疾病,不分性别。

英语百科

CHARGE syndrome CHARGE联合畸形

(重定向自CHARGE Association)
Coloboma

CHARGE syndrome (formerly known as CHARGE association), is a syndrome caused by a genetic disorder. It was first described in 1979.

In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children. The letters stand for: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. CHARGE syndrome is the leading cause of congenital deafblindness.

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