Fenichel G M, Phillips J A
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tenn.
Arch Neurol. 1989 May;46(5):582-3. doi: 10.1001/archneur.1989.00520410118036.
To our knowledge, this is the third (possibly the fourth) description of a family with partial aplasia of the cerebellar vermis. The major clinical features are normal intelligence, delayed achievement of motor milestones, truncal ataxia, and nystagmus. Twelve of 14 affected individuals are female. The two affected males were more severely affected than were their female relatives. These findings along with apparently increased fetal wastage suggest that an X-linked rather than an autosomal dominant mode of inheritance may be responsible for this disorder.
据我们所知，这是关于小脑蚓部部分发育不全家族的第三次（可能是第四次）描述。主要临床特征为智力正常、运动发育里程碑延迟、躯干共济失调和眼球震颤。14名受累个体中有12名是女性。两名受累男性比其女性亲属受累更严重。这些发现以及明显增加的胎儿丢失表明，这种疾病可能由X连锁而非常染色体显性遗传模式引起。
