Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients

Simran Grewal, Özgür Kilic, C. Dilara Savci-Heijink, Peter Kloen

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3 Citations (Scopus)


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 languageEnglish
Pages (from-to)373-377
Number of pages5
JournalJournal of Orthopaedics
Issue number5
Publication statusPublished - 3 May 2019


  • Endochondral
  • Fracture
  • Intramembranous
  • Osteoclasts
  • Pycnodysostosis
  • Remodeling

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