Autosomal recessive congenital stenosis of aqueduct of Sylvius.
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.
Barros-Nuñes
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División de Genética, Instituto Mexicano de Seguridad Social (IMSS), Guadalajara, Jalisco.
Rivas
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F
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