title: Clinical and ultrastructural findings in three patients with geleophysic dysplasia.
abstract: 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.
authors.affiliation: Kinderklinik und Poliklinik, Technischen Universität, Munich, Germany.
authors.forename: B F
authors.initials: BF
authors.lastname: Pontz
authors.forename: H
authors.initials: H
authors.lastname: Stöss
authors.forename: F
authors.initials: F
authors.lastname: Henschke
authors.forename: P
authors.initials: P
authors.lastname: Freisinger
authors.forename: A
authors.initials: A
authors.lastname: Karbowski
authors.forename: J
authors.initials: J
authors.lastname: Spranger
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007085:Ilium / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009679:Nuclear Family; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D011859:Radiography