Bone Abstracts

Desbuquois dysplasia (DBQD) is a rare recessive chondrodysplasia, characterized by growth retardation, multiple dislocations and advanced carpal ossification. Two forms of DBQD have been described on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies. DBQD type 1 is caused by mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), while DBQD type 2 is caused by mutations in the xylosiltransferase 1 gene.CANT1 ...

Osteoporosis and fragility fractures correlated, are a major clinical problem in older women and men and a major public health problem worldwide. As the population ages, the incidence of osteoporotic fractures is increasing. These fractures are associated with higher health care costs, physical disability, impaired quality of life, and increased mortality.Aim: evaluation of the frequency, type and age of onset of fragility fractures in 110 centenarians (...

Introduction: Heterotopic ossification (OH) is a rare condition characterized by the presence of extra-skeletal ossification; in most cases OH is due to the inactivation of the gene of guanine nucleotide-binding protein alpha-stimulating activity polypeptide (GNAS). In some cases they remain confined to skin and subcutaneus tissues (osteoma cutis, Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism type 1a and c (PHP1a/c), and pseudopseudohypothyroidism (PPHP)),...

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 ...

Vertebral fractures are one of the most common and disabling manifestation in osteoporosis. The relationship between bone mass and muscle strength has already been shown in the literature, but only a few studies argues the relationship between BMD and erector spinae muscles. Simple biomechanical considerations suggest that the loss of trunk muscle mass may contribute in vertebral fractures. In the literature, the Soerensen and isokinetic tests are often reported for t...

Between 5000 and 8000 rare diseases affect the daily lives of around 30 million people in the EU. Many of those affected by a rare or complex conditions frequently undergo to late diagnosis and inadequate care and do not have access to high quality treatment. European reference networks (ERNs) for rare diseases should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other Member States and ensuring the...

Biographical DetailsM Kassim JavaidAfter completing medical training at Charing Cross and Westminster Medical School, I specialized in adult rheumatology at the Wessex Deanery. During that time, I completed a PhD examining the maternal determinants of intra-uterine bone growth as part of an ARC Clinical Fellowship at the University of Southampton fo...

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...