1.
Rev Esp Cir Ortop Traumatol (Engl Ed)
; 2021 Jun 23.
Artículo
en Inglés, Español
| MEDLINE
| ID: mdl-34175234
RESUMEN
Pycnodysostosis is a rare autosomal recessive disease caused by a mutation in the cathepsin K enzyme gene, a protease that is expressed primarily in osteoclasts and is responsible for bone matrix degradation. The presentation is usually accompanied by short stature, osteoesclerosis, craniofacial dysmorphia and bone fragility. Some papers provide surgical options for fractures of long bones in this type of patients, but none are presenten in European Caucasian patients. The case presented is of a Spanish Caucasian European male with bilateral femoral fracture treated by endomedular nailing.