CHARGE連合の眼および全身随伴異常

Ocular and systemic manifestations in cases of CHARGE association

　14年間の定型的ぶどう膜コロボーマ自験例72例のうち，13例をCHARGE連合と診断した。主要症状であるぶどう膜コロボーマ，心異常，後鼻孔閉鎖，成長発育遅延，精神発達遅滞，性器低形成，耳介異常を除く眼または全身異常の随伴が11例にあった。眼関係では，瞳孔膜遺残5例と，乳頭周囲ぶどう腫，後部胎生環，先天白内障各1例であり，全身的には，先天性顔面神経麻痺5例，口唇・口蓋裂4例，小顎症3例，高口蓋2例，喉頭軟化症1例，DiGeOrge症候群1例であった。これら随伴異常の多くが神経堤細胞由来の組織に発生していることから，CHARGE連合の成立に神経堤細胞の発生異常が関係していると考えられた。

Among 72 consecutive cases of typical uveal coloboma during the foregoing 14 years, 13 cases were diagnosed as CHARGE association which include : coloboma, heart disease, atresia choanae, retarded growth, retarded development, genital hypoplasia and ear or hearing anomalies. Out of the 13 cases, 11 cases manifested ocular and/or systemic anomalies other than major features of CHARGE association. They included, ophthamologically, 5 cases of persistent pupillary membrane and one case each of peripapillary staphyloma, posterior embryotoxon and congenital cataract. Systemic anomalies included congenital facial palsy 5 cases, cleft lip and/or palate 4 cases, micrognathia 3 cases, high arched palate 2 cases, laryngomalacia 1 case and DiGeorge syndrome 1 case. Because many of these ocular and systemic anomalies involved tissues derived from neural crest cells, CHARGE association appeared to arise from maldevelopment of these cells.