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Autosomal recessive congenital stenosis of aqueduct of Sylvius
1División de Genética, Instituto Mexicano de Seguridad Social (IMSS), Guadalajara, Jalisco.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
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.