Bone Abstracts

Introduction: Fibrous dysplasia (FD) of bone is a benign, non-inheritable disease characterized by bone pain, bone deformities and fractures. Its prevalence is ~1 in 30 000 individuals and diagnosis is based on the clinical and radiologic findings and is confirmed by biopsy. Yet, in some cases biopsy is not applicable.Case report: A young woman presented to our outpatient clinic with a history of pain localized at the distal half of the left tibia that h...

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...