Bilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis

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 dys...

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Bibliographic Details
Published inRevista española de cirugía ortopédica y traumatología (English ed.)
Main Authors Delgado González, A, Morales Viaji, J J, López Díez, M E
Format Journal Article
LanguageEnglish
Published Spain 23.06.2021
Subjects
Subtrocantérica
Osteopetrosis
Subtrochanteric
Picnodisostosis
Pycnodisostosis
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Summary: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.
ISSN:2173-576X