CHARGE聯合畸型―一病例報告―

CHARGE Association–A Case Report-

張國樑(Kou-Liang Chang) ； 洪漢陽(Han-Yang Hung) ； 黃富源(Fu-Yuan Huang) ； 史濟青(Chi-Ching Shih)

《Acta Paediatrica Sinica》 26卷4期 (1985/08) Pp. 357-360

摘要

一名具有多處畸型的新生兒，經臨床及解剖發現具有以下畸型如：眼器官先天缺損(coloboma)，先天性心臟病，食道閉鎖，後鼻孔閉鎖，雙邊腦嗅徑(olfactory tract)的不發育，左邊的隱睪，及耳廊、耳道畸型等。是一個典型的CHARGE聯合畸型的病例，特提出報告。

並列摘要

The CHARGE association is an acronym of (1) C-coloboma, (2) H-heart disease, (3) A-atresia choanae, (4) R-retarded growth and development and/or CNS anomalies, (5) G-genital hypoplasia, and (6) E-ear anomalies and/or deafness. It was first defined by Pagon et al in 1981.
Here we present a typical case of CHARGE. association. A 1,600gm male neonate was born smoothly to a G3P3, 31 year-old healthy mother at the gestation age of 34 weeks. He was found to have many anomalies immediately after birth, which included coloboma of the right retina, bilateral choanae atresia, esophageal atresia with T-E fistula, hypoplastic mitral valve and left ventricle, truncus arteriosus, endocardial fibroelastosis, large patent ductus arteriosus, bicuspid semilunar valve, absence of bilateral olfactory tracts, undescended left testis, abnormal auricles with absence of right ear canal and ear drum, and malrotation of the intestines. He expired 34 hours after birth.

並列關鍵字

CHARGE association ； coloboma ； congenital heart disease ； atresia choanae