[CHARGE综合征]
[The CHARGE association].
作者信息
Finel E, Parent P, Giroux J D, de Parscau L
机构信息
Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.
出版信息
Arch Pediatr. 1996 Oct;3(10):1020-5. doi: 10.1016/0929-693x(96)81726-x.
The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.
CHARGE综合征是一种多系统发育异常疾病，伴有脉络膜缺损、心脏病、后鼻孔闭锁、生长发育迟缓、生殖器发育不全和耳部畸形，CHARGE是基于这些不同畸形的首字母缩写。诊断需要至少具备其中四种畸形，其中必须包括脉络膜缺损和/或后鼻孔闭锁。本文描述了其各种临床特征、遗传学及治疗意义。
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