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...

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Bibliographic Details
Published inClinical genetics Vol. 11; no. 6; p. 416
Main Authors Sovik, O, van der Hagen, B, Loken, A C
Format Journal Article
LanguageEnglish
Published Denmark 01.06.1977
Subjects
Cerebral Aqueduct - abnormalities
Cerebral Ventriculography
Female
Genetic Linkage
Humans
Hydrocephalus - congenital
Hydrocephalus - genetics
Infant, Newborn
Male
Neurologic Examination
Pedigree
Pregnancy
Sex Chromosomes
Sex Factors
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Summary: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.
ISSN:0009-9163
1399-0004