Case Report — Pyknodysostosis
Published: May 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.5894
S.C. Sanjay, Keshava Murthy, Anil Kumar Shukla, N. Krishnappa
1. Associate Professor,Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences, Bangalore, India.
2. Former Professor & HOD, Department of Paediatrics, Kempegowda Institute of Medical Sciences, Bangalore, India.
3. Professor, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences, Bangalore, India.
4. Professor & HOD, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences, Bangalore, India.
Correspondence
Dr. Anil Kumar Shukla,
77, Himagiri Apartment, Flat 4C, 15 cross, 4 Main, Malleswaram, Bangalore-560 055, India.
E-mail: shookla2007@yahoo.co.in
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.
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