Autosomal recessive congenital stenosis of aqueduct of Sylvius

Genet Couns. 1993;4(1):19-23.


Congenital hydrocephalus is an etiologically heterogeneous central nervous system malformation. Mendelian inheritance of stenosis of the aqueduct of Sylvius (SAS) accounts for almost 2% of all nonsyndromic forms. Among the monogenetic forms the great majority are X-linked. In this report we describe autosomal recessive transmission of SAS hydrocephalus in a high consanguinity family.

MeSH terms

  • Cerebral Aqueduct / abnormalities*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Consanguinity
  • Constriction, Pathologic / genetics
  • Genes, Recessive*
  • Humans
  • Hydrocephalus / genetics*
  • Infant
  • Male
  • Pedigree
  • Tomography, X-Ray Computed