Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.

@article{Stoll1990DandyWalkerVM,
  title={Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.},
  author={Claude Stoll and C{\'e}line Huber and Yves Alembik and E Terrade and Daniel Maitrot},
  journal={American journal of medical genetics},
  year={1990},
  volume={37 1},
  pages={124-7}
}
Two sibs, a boy and a girl, had both hypoplasia of the cerebellar hemispheres and partial agenesis of the cerebellar vermis with normal communication between the fourth ventricle and arachnoid spaces, i.e., the manifestations of the Dandy-Walker variant malformation associated with agenesis of the corpus callosum. Both sibs were mentally retarded and had spastic paraplegia. The occurrence of a distinct and similar pattern of congenital anomalies in sibs born to healthy parents points toward a… CONTINUE READING