Bone Abstracts

Background: Geleophysic dysplasia is a rare genetic bone disorder characterized by severe short stature, short hands and feet, characteristic facial features, limited joint mobility, thick skin, progressive cardiac valvular disorders and sometimes upper respiratory stenosis. Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.Case report: One-month-old male baby was initi...

Background: Cherubism is a rare autosomal dominant bone disease characterized by bilateral painless enlargement of the jaws, that typically first appear at the age of 2–7 years. In this condition the affected bone is replaced with fibrous tissue, giving the patient a cherubic appearance.Until now only 300 cases have been reported in the literature.Case report: A caucasian 4-year-old male child came to our Pediatric Clinic comp...

Background: Gorham Stout syndrome, also called disseminated lymphangiomatosis, is a rare disease of unknown etiology and pathogenesis. This syndrome is characterized by an abnormal proliferation of thin walled capillaries and small lymphatic vessels that results in the massive osteolysis of adjacent bone. Surrounding soft tissues such as muscle, connective tissue, and viscera may also be affected. Chylothorax occurs secondary to direct involvement of the pleural cavity or the ...

Background: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...

Background/aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluates bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: Eighteen patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepube...

Objective: Muscular dystrophy is characterized by lower skeletal muscle quality, lower muscle strength and physical performance. The aim of the study was to assess regional muscle density and its correlation with regional muscle area in Duchenne muscular dystrophy (DMD) subjects and able bodied controls.Method: Skeletal muscle pQCT (peripheral quantitative computed tomography) scans at the non-dominant forearm were performed in patients with muscle dystr...

Introduction: Epithelioid hemangioendothelioma (HEE) is a tumor of vascular origin, infrequent in the pediatric age and even more infrequent at intestinal level. To our knowledge, there are no previous reports of pediatric patients with malignant humoral hypercalcemia associated with this tumor. Humoral mechanism is seen more often in lung, uterine cérvix, skin and esophagus tumors. The presence of hypercalcemia appears to be an ominous prognostic sign.<p class="abste...

Background and aims: Low bone formation is the main pathogenic mechanism of osteoporosis in primary biliary cirrhosis (PBC). Sclerostin, an inhibitor of the Wnt pathway, is involved in the regulation of osteoblastogenesis and little is known about its role in the development of bone disease in PBC. Thus, we evaluated the circulating levels of sclerostin and its relationship to bone mass, the parameters of mineral metabolism and liver disease severity.Met...

Numerous studies have reported beneficial effects of multipotent mesenchymal stem cells (MSCs) in tissue repair and regeneration. These multipotent cells can be isolated from many different adult tissues and give rise to different cell lineages. The most well-characterized source for adult stem cells is still adult bone marrow, however in the past decade, subpopulations of stem cells have been isolated from dental tissues. Dental pulp has been identified as a promising source ...

Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been fou...