Case Report
Pycnodysostosis with the focus on clinical and radiographic findings
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
Submitted: 24 February 2012 | Published: 12 June 2012
About the author(s)
Benjamin Wybrand Barnard,, South AfricaWim 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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