title: Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.
abstract: Isolated hydrocephalus due to congenital stenosis of the aqueduct of Sylvius is almost always an X-linked recessive inherited condition. We describe a brother and sister with isolated hydrocephalus from congenital aqueductal stenosis. We believe that these two occurrences represent a rare autosomal recessive form of this abnormality. In assessing a first known occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family, the rare possibility of autosomal inheritance must be considered in genetic counselling.
authors.affiliation: Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan. hhamada@md.tsukuba.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Hamada
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Sugimoto
authors.forename: M
authors.initials: M
authors.lastname: Yasuoka
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Kubo
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D002535:Cerebral Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D003251:Constriction, Pathologic / Q000151:congenital / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal