Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance
G. M. Fenichel and J. A. Phillips
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tenn.
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.
