Pycnodysostosis with the focus on clinical and radiographic findings

Abstract

Pycnodyostosis is a rare autosomal recessive disorder that manifests as generalised osteosclerosis of the skeleton as a result of decreased bone turnover. Patients tend to suffer from numerous fractures owing to dense, abnormally brittle bones. The syndrome has a number of characteristic clinical and radiographic signs that differentiate it from other osteosclerotic conditions. This report is of a young man with a history of long bone fractures.