X‐linked recessive aqueductal stenosis without macrocephaly

Richard I. Kelley, Michael T. Mennuti, William F. Hickey, Elaine H. Zackai

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


A normocephalic, severely retarded boy with a family history suggesting aqueductal stenosis was found by computerized tomography to have aqueductal stenosis. His parents' concurrent pregnancy was monitored by ultrasonography and amniocentesis; these disclosed a male fetus which developed marked hydrocephalus after the 20th week. The pregnancy was terminated and an autopsy of the fetus demonstrated several major CNS malformations in addition to a very narrowed aqueduct. This case illustrates the diffuse CNS disease present in at least some cases of X‐linked aqueductal stenosis (XLAS) and the importance of considering this variable syndrome in normocephalic, non‐dysmorphic mentally retarded males. Important aspects of the prenatal diagnosis of XLAS are also illustrated.

Original languageEnglish (US)
Pages (from-to)390-394
Number of pages5
JournalClinical Genetics
Issue number5
StatePublished - May 1988
Externally publishedYes


  • agenesis corpus callosum
  • aqueductal stenosis
  • hydrocephalus
  • prenatal diagnosis
  • sex‐linked inheritance

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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