Hayes A, Costa T, Polomeno R C
Am J Med Genet. 1985 Oct;22(2):273-80. doi: 10.1002/ajmg.1320220208.
We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth-degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.
我们报告了一名患有杜安综合征、耳聋、颈椎和桡骨射线异常的儿童。先证者的一个姐妹患有半侧颜面短小畸形、颈椎异常和鱼际隆起发育不全。四名亲属有鱼际隆起发育不全。第五名亲属有轴前多指畸形。两名六度亲属患有杜安综合征。这似乎是一种常染色体显性性状。在这个家族中出现的这些异常单独或合并出现时，都曾被描述与杜安综合征相关。它们在同一个家族中的出现表明，它们不是独立的实体，而是同一基因的多效性效应。
