Article
Clinical and morphological phenotype of geleophysic dysplasia.
Annals of tropical paediatrics - 1 Jun 2008
Giray Ozlem, Kýr Mustafa, Bora Elçin, Saylam Gül, Ugurlu Baran, Gürel Duygu
Abstract excerpt
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...
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