Abstract
Pycnodysostosis is an autosomal recessive disease caused by a gene mutation leading cathepsin K deficiency. Pathological fractures of the long bones are common, but guidelines on fracture treatment in these patients are still lacking. We have treated 5 fractures in 2 pediatric pycnodysostosis patients. We hypothesize that pycnodysostosis patients have an incomplete remodeling process in fracture healing because of cathepsin K deficiency. Therefore, to minimize the role of endochondral bone formation (indirect) after a fracture, it seems prudent to strive for direct bone healing (intramembranous) instead of indirect bone healing. Open reduction with internal fixation should be the goal.
Original language | English |
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Pages (from-to) | 373-377 |
Number of pages | 5 |
Journal | Journal of Orthopaedics |
Volume | 16 |
Issue number | 5 |
DOIs | |
Publication status | Published - 1 Sep 2019 |