Clinical and ultrastructural findings in three patients with geleophysic dysplasia

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.

Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?

“…Although many clinical features of this syndrome were present in the patient reported herein, he did not have the typical happy facial appearance, and did not show the distinctive radiological changes such as small and irregular capital femoral epiphyses and plump tubular bones. Furthermore, no storage vacuoles in skin fibroblasts were detected as reported by Pontz et al [1996]. Fig.…”

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

“…Also, histological signs of storage disorder have been found in geleophysic dysplasia 47 8 Finally, the mode of inheritance is different in the three conditions: autosomal dominant in acromicric dysplasia and Moore-Federman syndrome9 10 and autosomal recessive in geleophysic dysplasia 1112 We therefore believe that at least geleophysic dysplasia is a distinct entity from acromicric dysplasia.…”

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

“…Tracheal stenosis responsible for severe respiratory problems is frequent. Geleophysic dysplasia biopsy material has shown abundant lysosome-like vacuoles in hepatocytes, fibroblasts and macrophages suggestive of a storage disorder2,3 (Supplementary Fig. 1 online).…”