𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and ultrastructural findings in three patients with geleophysic dysplasia

✍ Scribed by Pontz, Bertram F.; Stöß, Hartmut; Henschke, Frank; Freisinger, Peter; Karbowski, Alfred; Spranger, Jürgen

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
34 KB
Volume
63
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happylooking" 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.

📜 SIMILAR VOLUMES

Clinical analysis and TPO levels in thre
Clinical analysis and TPO levels in three patients with refractory thrombocytopenia
✍ Kyoda, Katsunori; Nakamura, Shinobu; Takeshima, Minoru; Okumura, Hirokazu; Ohtak 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 1 views

Refractory thrombocytopenia (RTC) is a counter-concept to refractory anemia, which is characterized by isolated thrombocytopenia associated with clonal chromosomal abnormality. The diagnosis of RTC is difficult to establish based on morphologic features alone. And steroid therapy for RTC is often in

Clinical and hematologic findings in Noo
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations
✍ Murat Derbent; Yekta Oncel; Kürşad Tokel; Birgül Varan; Ayşegül Haberal; A. Cana 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 2 views

## Abstract Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rat