Linked Life Data

10210131

Source:http://linkedlifedata.com/resource/pubmed/id/10210131

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-7-28
pubmed:abstractText
We present a family in which the first affected child presented with a 'milder' form of the hydrolethalus syndrome and survived to seven months, and two subsequent pregnancies with typical features detected early by ultrasound evaluation. We propose that the 'milder' cases are indeed true cases of the hydrolethalus syndrome and that allelic variability may be responsible for these 'non-typically Finnish' findings. We also demonstrate that, especially in families where there has been a previously affected fetus, echographic diagnosis can be made in the first trimester, as early as the 11th week of gestation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
279-81
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis.
pubmed:affiliation
Department of Human Genetics, The School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa. Thomyd@mail.saimr.wits.ac.za
pubmed:publicationType
Journal Article