COLOBOMA, CONGENITAL HEART-DISEASE, AND CHOANAL ATRESIA WITH MULTIPLE ANOMALIES - CHARGE ASSOCIATION
COLOBOMA, CONGENITAL HEART-DISEASE, AND CHOANAL ATRESIA WITH MULTIPLE ANOMALIES - CHARGE ASSOCIATION
复制标题
DOI：
10.1016/s0022-3476(81)80454-4
复制
发表时间：
1981-01-01
影响因子：
5.1
通讯作者：
YONG, SL
中科院分区：
文献类型：
--
作者：
PAGON, RA;GRAHAM, JM;YONG, SL
报告了患有后鼻孔闭锁或眼缺损或两者兼有的患者（21例），这些患者伴有某些其他相关异常，包括先天性心脏病、出生后生长缺陷、智力低下和/或CNS异常、小阴茎和隐睾症以及耳异常和/或耳聋。面神经麻痹、小颌畸形、腭裂和吞咽困难也很常见。在这些患者中还不可能确定单一病因或综合征。提出了记忆词CHARGE（C-缺损、H-心脏病、A-闭锁性choorrhoea、R-生长迟缓和发育迟缓和/或中枢神经系统异常、G-生殖器发育不全和E-耳异常和/或耳聋）来描述这种关联的特征。
Patients (21) with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness, are reported. Facial palsy, micrognathia, cleft palate and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. The mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia and E-ear anomalies and/or deafness) is proposed to describe the features of this association.