Clinical and morphological phenotype of geleophysic dysplasia
| Autor: | Mustafa Kýr, Duygu Gürel, Elçin Bora, Baran Ugurlu, Gül Sağın Saylam, Ozlem Giray |
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| Rok vydání: | 2008 |
| Předmět: |
Heart Defects
Congenital Male Pathology medicine.medical_specialty Mucopolysaccharidosis medicine.medical_treatment Fatal Outcome Lysosomal storage disease medicine Humans Abnormalities Multiple business.industry Mitral valve replacement Facies Tricuspid insufficiency medicine.disease Pulmonary hypertension Phenotype Lysosomal Storage Diseases Stenosis Dysplasia Child Preschool Pediatrics Perinatology and Child Health cardiovascular system business |
| Zdroj: | Annals of Tropical Paediatrics. 28:161-164 |
| ISSN: | 1465-3281 0272-4936 |
| DOI: | 10.1179/146532808x302206 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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