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: 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...

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopaenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP1...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

Objectives: Adolescent idiopathic scoliosis (AIS) was associated with low bone mass which, apart from being an important health issue that could persist into adulthood, was also a significant prognostic factor for curve progression in AIS. We have performed a randomized controlled trial on whole-body vibration (WBV) and reported its effect on increasing femoral neck areal bone mineral density (aBMD) mainly at the dominant leg. The objective of this study was to evaluate the ro...

Objectives: AIS is associated with both low bone mass and elevated serum bone alkaline phosphatase. The greater the latitude of the geographical region, the higher is the prevalence of AIS. These specific features were compatible with the presence of either Vit-D insufficiency or abnormal physiology with Vit-D. It is important to evaluate these potentially treatable conditions regarding their roles in the etiopathogenesis of AIS. The objectives of this case-control study were ...

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...

Objectives: This study aimed to evaluate detailed bone profiles during puberty for Chinese adolescents in Hong Kong using high-resolution peripheral quantitative computed tomography (HR-pQCT) and dual-energy x-ray absorptiometry (DXA).Methods: 333 healthy girls and 231 healthy boys (12–16-years-old) were recruited from secondary schools. Areal bone mineral density (aBMD) of bilateral femoral necks were measured by DXA while bone quality parameters w...