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about 7 years ago
pycnodysostosis Pycnodysostosis is an autosomal recessive lysosomal storage disorder caused by a mutation in the gene encoding the enzyme cathepsin K. Features of pycnodysostosis include short stature and acro-osteolysis.
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Classical example of pycnodysostosis, increased bone density, short stature (pyknic), frequent fractures and osteolysis of distal phalanges.
