Bone Abstracts

X-linked hypophosphatemic osteomalacia (XLH) is an inherited skeletal disorder. The pathogenesis of the disease is fibroblast growth factor 23 (FGF23) induced renal phosphate wasting, hypophosphatemia and inappropriate lower 1, 25-dihydroxy-vitamin D3 concentration, which lead to impaired bone mineralization. There are only a few studies focus on phenotype of XLH patients in adulthood. Therefore, this cross-sectional study systematically described anthropometric, cl...

TRPV4-associated skeletal dysplasias include: FDAB, ADBO, SMDK, SEDM, MD and Parastremmatic dysplasia. In this study, we recruited 3 families with congenital scoliosis and 1 family with localized digital osteopetrosis. We collected their clinical data and use the next-generation sequencing system, Sanger sequencing and RT-PCR to obtain the genetic diagnosis. Proband 1, 2, 3 all presented with early-onset kyphoscoliosis and short stature. X-ray showed platyspondyly, hemivertebr...

Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which can affect single or multiple sites of bone. Although the exact cause of PDB is still controversial, genetic factor is considered to play an important role in PDB. The causative gene of classical PDB was identified as Q8STM1 gene. Familial expansile osteolysis caused by the mutation of TNFRSF11A(RANKL) gene a...