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

Am J Med Genet. 1990 Sep;37(1):124-7. doi: 10.1002/ajmg.1320370129.

Abstract

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 "new" syndrome caused by the homozygous state of an autosomal recessive gene. Prenatal ultrasonographic diagnosis is possible at least for the more severe form of the brain anomalies.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Child
  • Dandy-Walker Syndrome / complications
  • Dandy-Walker Syndrome / diagnostic imaging
  • Dandy-Walker Syndrome / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Paraplegia / complications
  • Paraplegia / genetics*
  • Tomography, X-Ray Computed