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Ann Trop Paediatr. 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206.

Clinical and morphological phenotype of geleophysic dysplasia.

Author information

  • 1Division of Genetics, Department of Pediatrics, Dokuz Eylül University, Yzmir, Turkey. ozlem.giray@deu.edu.tr

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.

PMID:
18510828
[PubMed - indexed for MEDLINE]
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