Okihiro M M, Tasaki T, Nakano K K, Bennett B K
Arch Neurol. 1977 Mar;34(3):174-9. doi: 10.1001/archneur.1977.00500150060012.
We report a family in which five members in three generations have been afflicted with Duane syndrome. Four of the five members also have congenital hypoplasia of the thenar eminence. One also was afflicted with Hirschsprung disease and another was born deaf. A sixth member, who does not have Duane syndrome, is afflicted with a more extensive malformation of the upper extremities and unilateral deafness. We present a discussion of Duane syndrome and its association with other congenital anomalies. Although some members of this family presented in this report show features that are similar to the Holt-Oram syndrome, Wildervanck's syndrome, and others reported in the literature, there are several unique features about this family that we thought were worth reporting.
我们报告了一个家族,三代人中的五名成员患有杜安综合征。这五名成员中有四名还患有大鱼际肌先天性发育不全。其中一人还患有先天性巨结肠,另一人先天性耳聋。第六名成员没有杜安综合征,但患有更广泛的上肢畸形和单侧耳聋。我们对杜安综合征及其与其他先天性异常的关联进行了讨论。尽管本报告中呈现的该家族一些成员表现出与文献中报道的霍尔特-奥勒姆综合征、维尔德文克综合征及其他综合征相似的特征,但该家族仍有几个独特之处,我们认为值得报告。