CHARGE联合畸形 CHARGE syndrome


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。
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)
![]() ![]() 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)
![]() ![]() 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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