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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
|
pubmed:dateCreated |
1993-1-6
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pubmed:abstractText |
A full-term female infant with the rare Larsen's syndrome who died after 2 days is presented. The infant exhibited several of the anomalies characteristically reported with this syndrome. These include multiple joint deformities, a flattened facies, hydrocephalus, cardiac defects, and tracheal stenosis. We now report two additional congenital malformations that have not been previously reported with this syndrome: complete agenesis of the anus, with the distal colon ending in a cul-de-sac, and the presence of a bifid uterus. These novel congenital anomalies further support the etiology of Larsen's syndrome as a generalized mesenchymal disorder, since they arise from a defective process of embryonal induction involving mesenchymal tissue.
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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:month |
Oct
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pubmed:issn |
0046-8177
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
22
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1055-7
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:1842379-Abnormalities, Multiple,
pubmed-meshheading:1842379-Anal Canal,
pubmed-meshheading:1842379-Autopsy,
pubmed-meshheading:1842379-Connective Tissue Diseases,
pubmed-meshheading:1842379-Dislocations,
pubmed-meshheading:1842379-Female,
pubmed-meshheading:1842379-Humans,
pubmed-meshheading:1842379-Infant, Newborn,
pubmed-meshheading:1842379-Syndrome,
pubmed-meshheading:1842379-Uterus
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pubmed:year |
1991
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pubmed:articleTitle |
Larsen's syndrome with novel congenital anomalies.
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pubmed:affiliation |
Department of Pathology and Cell Biology, Thomas Jefferson University Hospital, Philadelphia, PA 19107.
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pubmed:publicationType |
Journal Article,
Case Reports
|