Document Detail

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.
MedLine Citation:
PMID:  24192049     Owner:  NLM     Status:  Publisher    
Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease. It is characterised by characteristic facial phenotype, short stature, micromelia, joint contracture, and early cardiac valvular involvement. It has been described worldwide in <40 patients. Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement.
Motea E Elhoury; Eissa Faqeih; Abdulrahman S Almoukirish; Mohammed O Galal
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-11-6
Journal Detail:
Title:  Cardiology in the young     Volume:  -     ISSN:  1467-1107     ISO Abbreviation:  Cardiol Young     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-11-6     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-6     Citation Subset:  -    
1 Department of Pediatric Cardiology, Prince Salman Heart Center, Riyadh, Saudi Arabia.
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