Case Report

Pycnodysostosis with the focus on clinical and radiographic findings

Benjamin Wybrand Barnard, Wim Hiddema
South African Journal of Radiology | Vol 16, No 2 | a313 | DOI: https://doi.org/10.4102/sajr.v16i2.313 | © 2012 Benjamin Wybrand Barnard, Wim Hiddema | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2012 | Published: 12 June 2012

About the author(s)

Benjamin Wybrand Barnard,, South Africa
Wim Hiddema,

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.

Keywords

Pycnodysostosis; Osteosclerosis

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