Mitchell J A, Giangiacomo J, Hefner M A, Thelin J W, Pickens J M
Ophthalmic Paediatr Genet. 1985 Aug;6(1-2):271-6.
We had the opportunity to examine eight individuals in four generations of a family with dominant CHARGE association. In three generations there were five affected individuals. The 25-year old male proband had coloboma of the iris, retina and optic disc, mental retardation, hypogonadism, malformed ears, and mixed hearing loss. His 19-year old sister had colobomas of the retina, choroid, and disc, mental retardation and malformed ears. The mother of these two individuals had coloboma of the retina, choroid, and optic disc, dull mentality, and mixed hearing loss. The proband's maternal grandmother had peripapillary staphylomatous changes of the disc, mixed hearing loss, and malformed protruding ears. The proband's maternal uncle had mental retardation, hypogonadism, mixed hearing loss, protruding ears, but no colobomas. All of the affected individuals had a distinct configuration to the midface, including malar hypoplasia, prominent nasal columnella and a long nasal philtrum. The inheritance of the CHARGE association in this family would appear to be autosomal dominant. However, as the males have not reproduced, it is not possible to rule out X-linked dominant inheritance.
我们有机会对一个患有显性CHARGE综合征的家族的四代人中的八名个体进行检查。在三代人中，有五名受影响个体。25岁的男性先证者患有虹膜、视网膜和视盘缺损，智力发育迟缓，性腺功能减退，耳朵畸形以及混合性听力损失。他19岁的姐姐患有视网膜、脉络膜和视盘缺损，智力发育迟缓以及耳朵畸形。这两名个体的母亲患有视网膜、脉络膜和视盘缺损，智力迟钝以及混合性听力损失。先证者的外祖母患有视盘周围葡萄肿样改变、混合性听力损失以及突出的畸形耳朵。先证者的舅舅患有智力发育迟缓、性腺功能减退、混合性听力损失、耳朵突出，但没有缺损。所有受影响个体的中面部都有独特的形态，包括颧骨发育不全、明显的鼻小柱和长鼻唇沟。这个家族中CHARGE综合征的遗传似乎是常染色体显性遗传。然而，由于男性没有生育，无法排除X连锁显性遗传。
