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1981年 Pagon 等首先将鼻孔闭锁合并其它畸形命名为 CHARGE。C 即虹膜、脉络膜或视网膜缺损;H 即心畸形;A 即鼻孔闭锁;R 即生长和发育迟缓;G 即男性生殖器异常;E 即耳异常和耳聋。至今已约有100例报告,但是病因仍然不明。病儿性别相等。多数病例为散发,有一对双生女孩以及 Pagan 等最初报道有一兄妹同病。再发率极低说明该病可能是一染色体异常或者是一新的显性突变。无人报道过典型的 CHARGE 病孩有明显的核型异常。Shroff 等曾报道一男孩有气
In 1981 Pagon and other first nostril lock combined with other deformities named CHARGE. C is the iris, choroid or retinal defects; H is the heart deformity; A is the nostril atresia; R is growth and developmental retardation; G male genital abnormalities; E that is, ear abnormalities and deafness. So far about 100 cases have been reported, but the cause is still unknown. Sick children of equal gender. The majority of cases are exuded, with a pair of twin girls and a sibling originally reported by Pagan et al. The low recurrence rate suggests that the disease may be a chromosomal abnormality or a new dominant mutation. No one has reported a significant karyotypic abnormality in a typical CHARGE patient. Shroff et al. Reported that a boy was angry