"The prototypic but not sole member of this group is known by various names including most specifically juvenile Paget disease but also referred to as congenital hyperphosphatasia, idiopathic hyperphosphatasia, chronic congenital idiopathic hyperphosphatasia, chronic familial hyperphosphatasia, familial idiopathic hyperphosphatasia, familial osteoectasia, osteoectasia with hyperphosphatasia, chronic progressive osteopathy with hyperphosphatasia, and hyperostosis corticalis deformans juvenilis 2-4."
"The prototypic but not sole member of this group is known by various names including most specifically juvenile Paget disease but also referred to as congenital hyperphosphatasia, idiopathic hyperphosphatasia, chronic congenital idiopathic hyperphosphatasia, chronic familial hyperphosphatasia, familial idiopathic hyperphosphatasia, familial osteoectasia, osteoectasia with hyperphosphatasia, chronic progressive osteopathy with hyperphosphatasia, and hyperostosis corticalis deformans juvenilis 2-4."
"Normally, osteoprotegerin is a decoy receptor for receptor activator of nuclear factor-κB (RANK) ligand, thereby suppressing osteoclast differentiation. In this disorder, osteoprotegerin is deficient, resulting in osteoclast overactivity and thus rapid bone turnover and remodelling 3."
"Homozygous or compound heterozygous mutations in TNFRSF11B, on chromosome 8q24.2, results in deficiency of the gene product, osteoprotegerin 3."
Expected headings
"Radiologic features"
"Radiography"
"Nuclear medicine"
"The prototypic but not sole member of this group is known by various names including most specifically juvenile Paget disease but also referred to as congenital hyperphosphatasia, idiopathic hyperphosphatasia, chronic congenital idiopathic hyperphosphatasia, chronic familial hyperphosphatasia, familial idiopathic hyperphosphatasia, familial osteoectasia, osteoectasia with hyperphosphatasia, chronic progressive osteopathy with hyperphosphatasia, and hyperostosis corticalis deformans juvenilis 2-4."