Linked Life Data

496530

Source:http://linkedlifedata.com/resource/pubmed/id/496530

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1979-12-29
pubmed:abstractText
A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0003-9764
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
379-86
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1979
pubmed:articleTitle
[The cerebro-oculo-facio-skeletal syndrome].
pubmed:publicationType
Journal Article, English Abstract, Case Reports