Document Detail


Clinical and morphological phenotype of geleophysic dysplasia.
MedLine Citation:
PMID:  18510828     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Ozlem Giray; Mustafa Kýr; Elçin Bora; Gül Saylam; Baran Ugurlu; Duygu Gürel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annals of tropical paediatrics     Volume:  28     ISSN:  0272-4936     ISO Abbreviation:  Ann Trop Paediatr     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-30     Completed Date:  2008-08-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8210625     Medline TA:  Ann Trop Paediatr     Country:  England    
Other Details:
Languages:  eng     Pagination:  161-4     Citation Subset:  IM    
Affiliation:
Division of Genetics, Department of Pediatrics, Dokuz Eylül University, Yzmir, Turkey. ozlem.giray@deu.edu.tr
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis
Child, Preschool
Facies
Fatal Outcome
Heart Defects, Congenital / diagnosis
Humans
Lysosomal Storage Diseases / diagnosis*,  genetics
Male
Phenotype

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