Case Report â€” Pyknodysostosis TD09-TD10
Dr. Anil Kumar Shukla,
77, Himagiri Apartment, Flat 4C, 15 cross, 4 Main, Malleswaram, Bangalore-560 055, India.
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.