title: Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.
abstract: We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.
authors.affiliation: Department of Genetics, Hospital La Paz, Madrid, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: A
authors.initials: A
authors.lastname: Delicado
authors.forename: M L
authors.initials: ML
authors.lastname: de Torres
authors.forename: M A
authors.initials: MA
authors.lastname: Mor
authors.forename: R F
authors.initials: RF
authors.lastname: Pérez-Pacheco
authors.forename: Pajares I
authors.initials: PI
authors.lastname: Lópes
mesh_terms: D000328:Adult; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D003251:Constriction, Pathologic / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000209:etiology; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal