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- W2018574530 abstract "Geleophysic 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. © 1996 Wiley-Liss, Inc." @default.
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- W2018574530 date "1996-05-03" @default.
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- W2018574530 title "Clinical and ultrastructural findings in three patients with geleophysic dysplasia" @default.
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- W2018574530 doi "https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<50::aid-ajmg11>3.0.co;2-t" @default.
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