Linked Life Data

2635714

Source:http://linkedlifedata.com/resource/pubmed/id/2635714

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4-5
pubmed:dateCreated
1990-6-18
pubmed:abstractText
The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0021-7743
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
373-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
[Renal agenesis and the Fraser syndrome: 4 observations].
pubmed:affiliation
Pédiatrie et Génétique B, Hôtel-Dieu, CHRU Clermont-Ferrand.
pubmed:publicationType
Journal Article, English Abstract, Case Reports