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Case Reports
. 2015 May;9(5):TD09-10.
doi: 10.7860/JCDR/2015/11656.5894. Epub 2015 May 1.

Case Report - Pyknodysostosis

S C Sanjay  1 , Keshava Murthy  2 , Anil Kumar Shukla  3 , N Krishnappa  4
Affiliations
Case Reports

Case Report - Pyknodysostosis

S C Sanjay et al. J Clin Diagn Res. 2015 May.

Abstract

Pyknodysostosis is an extremely rare lysosomal storage disease of the bone. Osteosclerosis of the skeleton is due to a decrease of the bone turnover. A plethora of clinical and radiological findings are observed. Patients are short statured with acroosteolysis and dense bones and develop multiple spontaneous bone fractures. A female patient presented with frontal bossing, small and thick fingers and toes. The classical clinical and radiological findings confirmed it as pyknodysostosis.

Keywords: Acroosteolysis; Fontanel; Sandal gap deformity.

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Figures

[Table/Fig-1]:
[Table/Fig-1]:
Anterio Posterior radiograph of the feet showing sandal gap deformity and acroosteolysis
[Table/Fig-2]:
[Table/Fig-2]:
Anterio Posterior radiograph of legs showing Banana Fractures of mid shaft of both tibiae
[Table/Fig-3]:
[Table/Fig-3]:
Lateral radiograph skull showing open fontanelle, acute angled mandible and wormian bones
[Table/Fig-4]:
[Table/Fig-4]:
Anterio Posterior radiograph of the hands showing acroosteolysis
See this image and copyright information in PMC

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