X-LINKED AQUEDUCTAL STENOSIS

  • 1 January 1977
    • journal article
    • research article
    • Vol. 11  (6) , 416-420
Abstract
A family is reported in which 8 members of 1 generation were affected by the syndrome hydrocephalus with aqueductal stenosis. With the exception of 1 child who lived for several weeks, they all died at or within 10 days of birth. Autopsy of a pair of affected twins showed marked stenosis of the aqueduct of Sylvius with fusion of the lamina quadrigemina. There were no signs of previous or present inflammatory changes or neoplasia. All the affected individuals were males, and the familial and pathological data presented support the concept that aqueductal stenosis in this family was due to an X-linked gene, and may have a developmental origin.