| Autor: |
B F, Pontz, H, Stöss, F, Henschke, P, Freisinger, A, Karbowski, J, Spranger |
| Rok vydání: |
1996 |
| Předmět: |
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| Zdroj: |
American journal of medical genetics. 63(1) |
| ISSN: |
0148-7299 |
| Popis: |
Geleophysics dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happy-looking" facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided additional evidence that geleophysic dysplasia represents a lysosomal storage disease. The additional discovery of storage vacuoles in chondrocytes and skin fibroblasts strongly suggests that the condition is a generalized storage defect. To date, it has not yet been possible to identify the presumed biochemical defect in the metabolic pathways of glycoproteins. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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