Linked Life Data

3498797

Source:http://linkedlifedata.com/resource/pubmed/id/3498797

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1987-11-20
pubmed:abstractText
The authors report 5 cases of congenital hydrocephalus due to isolated stenosis of the aqueduct of Sylvius. In the first three cases (2 brothers and 1 sister) ventriculograms showed apparent obstruction of the aqueduct. A valve shunting was necessary at 1 month of age in cases 1 and 2, at 3 years of age in case 3. In cases 4 and 5 (1 brother and 1 sister) ultrasonic prenatal diagnosis showed ventriculomegaly and pregnancies were interrupted respectively at 31 and 28 weeks of gestational age. The pedigree of the families suggests that the inheritance of this abnormality is autosomal recessive. Such an inheritance is very unusual and confirms the difficulty of genetic counseling facing the first occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family. The prenatal diagnosis is based on fetal ultrasonic examination and may be obtained late in the pregnancy leading to therapeutic and ethical tricky decisions.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0021-7743
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
251-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)].
pubmed:affiliation
Service de Pédiatrie B et Génétique Médicale, Hôtel-Dieu, CHRU Clermont-Ferrand.
pubmed:publicationType
Journal Article, English Abstract, Case Reports