Source:http://linkedlifedata.com/resource/pubmed/id/18510828
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2008-5-30
|
| pubmed:abstractText |
Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0272-4936
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
28
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
161-4
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| pubmed:meshHeading |
pubmed-meshheading:18510828-Abnormalities, Multiple,
pubmed-meshheading:18510828-Child, Preschool,
pubmed-meshheading:18510828-Facies,
pubmed-meshheading:18510828-Fatal Outcome,
pubmed-meshheading:18510828-Heart Defects, Congenital,
pubmed-meshheading:18510828-Humans,
pubmed-meshheading:18510828-Lysosomal Storage Diseases,
pubmed-meshheading:18510828-Male,
pubmed-meshheading:18510828-Phenotype
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Clinical and morphological phenotype of geleophysic dysplasia.
|
| pubmed:affiliation |
Division of Genetics, Department of Pediatrics, Dokuz Eylül University, Yzmir, Turkey. ozlem.giray@deu.edu.tr
|
| pubmed:publicationType |
Journal Article,
Case Reports
|