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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1980-9-23
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pubmed:abstractText |
At least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
373-81
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:7395917-Canada,
pubmed-meshheading:7395917-Consanguinity,
pubmed-meshheading:7395917-Gene Frequency,
pubmed-meshheading:7395917-Humans,
pubmed-meshheading:7395917-Infant, Newborn,
pubmed-meshheading:7395917-Kidney Diseases, Cystic,
pubmed-meshheading:7395917-Limb Deformities, Congenital,
pubmed-meshheading:7395917-Male,
pubmed-meshheading:7395917-Meningocele,
pubmed-meshheading:7395917-Microphthalmos,
pubmed-meshheading:7395917-Russia (Pre-1917),
pubmed-meshheading:7395917-Syndrome
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pubmed:year |
1980
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pubmed:articleTitle |
The Meckel syndrome in the Hutterites.
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pubmed:publicationType |
Journal Article,
Case Reports
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