Mazabraud's syndrome: A case report supported by molecular studies and review of the literature.

Mazabraud's syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud's syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall.

Novel clinical and radiological measures of lower limb obesity.

Osteoarthritis of the knee is strongly associated with central obesity, and the prevalence of obesity in patients undergoing knee arthroplasty procedures is expected to increase. Central obesity is associated with multiple adverse outcomes after knee arthroplasty, but the impact of obesity specifically around the operated knee is poorly understood. One reason for this is the absence of a standardized measure, analogous to BMI for central obesity, to facilitate research. The aim of this study was to develop a radiological limb obesity scoring system which reliably corresponds with anthropometric measurements. Detailed anthropometric and radiological measurements were taken from patients undergoing total and unicompartmental knee replacement. Anthropometric measurements were combined into a composite score using principal components analysis. Different radiological scoring methods were evaluated against the anthropometric measure using correlation and regression analyses. Intraclass correlation coefficients were used to evaluate intra- and inter-observer reliability of the radiographic measurements. Measurements were obtained from fifty patients. There was a significant correlation between the composite anthropometric score and unadjusted radiological soft tissue width at the level of the femoral condyles (p < 0.001). There was also a significant correlation with the ratio of tissue to bone widths at the same level (p < 0.001), and fit was improved by including variables coding for soft tissues overlapping the medial or lateral boundaries of the radiograph. We have demonstrated a methodology for producing standardized radiological limb obesity scores which are strongly correlated with anthropometric measurements, and which can be easily applied in diverse clinical and research settings.