Siebert J R, Graham J M, MacDonald C
Teratology. 1985 Jun;31(3):331-6. doi: 10.1002/tera.1420310303.
Defects associated with choanal atresia include coloboma, cardiac anomalies (usually involving the conotruncal region), physical or mental retardation, genital hypoplasia, and abnormalities of the ear. This constellation of defects is known as the "CHARGE" association and may be accompanied by other anomalies. Many of these defects seem to result from abnormalities in the development, migration, or interaction of cells of the cephalic neural crest. The range of variation in neural crest development is substantial, as indicated by the rather large number of malformation complexes and syndromes that are related phenotypically to the CHARGE association. The increasingly unwieldy nature of this collection of malformations demonstrates the need for an expanded classification of the "neurocrestopathies."
与后鼻孔闭锁相关的缺陷包括眼部缺损、心脏异常（通常累及圆锥动脉干区域）、身体或智力发育迟缓、生殖器发育不全以及耳部异常。这一系列缺陷被称为“CHARGE”综合征，可能还伴有其他异常。这些缺陷中的许多似乎是由头部神经嵴细胞的发育、迁移或相互作用异常所致。神经嵴发育的变异范围很大，从相当多与CHARGE综合征存在表型关联的畸形复合体和综合征就可见一斑。这一畸形集合体愈发繁杂的特性表明，需要对“神经嵴病”进行更广泛的分类。
