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- Title
Clinical and morphological phenotype of geleophysic dysplasia.
- Authors
Giray, Ozlem; Kýr, Mustafa; Bora, Elçin; Saylam, Gül; Ugurlu, Baran; Gürel, Duygu
- Abstract
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.
- Publication
Annals of tropical paediatrics, 2008, Vol 28, Issue 2, p161
- ISSN
0272-4936
- Publication type
Journal Article
- DOI
10.1179/146532808X302206