X-linked aqueductal stenosis.
A family is reported in which eight members of one generation were affected by the syndrome hydrocephalus with aqueductal stenosis. With the exception of one 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.
D002535:Cerebral Aqueduct / Q000002:abnormalities*; D014695:Cerebral Ventriculography; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000151:congenital / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D011247:Pregnancy; D012730:Sex Chromosomes; D012737:Sex Factors