| pubmed-article:1579848 | pubmed:abstractText | Toxopachyosteosis, a rare bone disease, was described in 1954 by Weissmann-Netter and Stuhl. This congenital osteopathy, which may be familial, is defined by an anteroposterior curvature (toxon = arc) and thickening (pachus = thick) of the shafts of both leg bones. Other bones may be affected. Short stature and delayed walking are other important special features of the disease. It is most often diagnosed late and by chance because of the minimal functional consequences of the deformities. Sequelae of vitamin D-deficient rickets are the main differential diagnosis. The aim of this study undertaken by the Bone and Calcium/Phosphorus Metabolism Section of the Société Française de Rhumatologie (French Society of Rheumatology) was an overall assessment of the disease. The authors report 30 cases of toxopachyosteosis and evaluate their main characteristics on the basis of data from the literature. | lld:pubmed |
