Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

J Matern Fetal Neonatal Med. 2002 Jul;12(1):64-6. doi: 10.1080/jmf.12.1.64.66.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebral Aqueduct / abnormalities*
  • Constriction, Pathologic / complications
  • Constriction, Pathologic / diagnostic imaging
  • Constriction, Pathologic / genetics
  • Diagnosis, Differential
  • Female
  • Genetic Counseling
  • Humans
  • Hydrocephalus / diagnostic imaging*
  • Hydrocephalus / etiology
  • Male
  • Pregnancy
  • Ultrasonography, Prenatal