CLINICAL AND ULTRASTRUCTURAL FINDINGS IN 3 PATIENTS WITH GELEOPHYSIC DYSPLASIA

Geleophysic dysplasia, a rare disorder with autosomal-recessive inheri tance, is characterized by short stature with a ''happy-looking'' faci al appearance, Nonskeletal findings, particularly in an advanced stage , include hepatosplenomegaly and valvular cardiopathy, Based on the cl inical picture and the detection of lysosome-like inclusions in hepato cytes, the underlying cause of the condition is considered to be a sto rage defect in the metabolism of glycoproteins. The clinical course, w ith progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic stu dies of iliac crest biopsies and cultured skin fibroblasts provided ad ditional evidence that geleophysic dysplasia represents a lysosomal st orage disease. The additional discovery of storage vacuoles in chondro cytes and skin fibroblasts strongly suggests that the condition is a g eneralized storage defect. To date, it has not yet been possible to id entify the presumed biochemical defect in the metabolic pathways of gl ycoproteins. (C) 1996 Wiley-Liss, Inc.