title: Autosomal recessive congenital stenosis of aqueduct of Sylvius.
abstract: 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.
authors: División de Genética, Instituto Mexicano de Seguridad Social (IMSS), Guadalajara, Jalisco.
authors: P
authors: P
authors: Barros-Nuñes
authors: F
authors: F
authors: Rivas
mesh_terms: D002535:Cerebral Aqueduct / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D003251:Constriction, Pathologic / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed