Linked Life Data

11113917

Source:http://linkedlifedata.com/resource/pubmed/id/11113917

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2001-1-9
pubmed:abstractText
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic signs of the MASA spectrum such as hydrocephalus and hypoplasia of corpus callosum. Indeed, the evidence of an X-linked neurological disease in the brother and the maternal uncle of the pregnant women enabled us to estimate a 25% risk of a male fetus being an affected hemizygote. The way in which a prenatal diagnosis, based on instrumental procedures, was reached is described since the authors were unable to perform, at the time of the observation, a molecular confirmation which was carried out only after birth.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0197-3851
pubmed:author
pubmed:copyrightInfo
Copyright 2000 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1012-4
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
MASA syndrome: ultrasonographic evidence in a male fetus.
pubmed:affiliation
Division of Obstetrics and Gynecology, University Hospital, Perugia, Italy.
pubmed:publicationType
Journal Article, Case Reports