ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2015
Atypical femur fractures in a patient with pycnodysostosis: a case report.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Increased Bone Resorption during Lactation in Pycnodysostosis.International journal of molecular sciences · 2021Trial
- Article
- Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.Journal of clinical medicine · 2024Article
- Review
- Bisphosphonate therapy associated with bilateral atypical femoral fracture and delayed union.Joint diseases and related surgery · 2022Article
- Traumatic cervical spine injuries in a patient with pycnodysostosis.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2018Review
- Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Review
- Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.Endocrine reviews · 2017Review
- A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Medicine · 2017Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pycnodysostosis is a rare autosomal recessive disease due to a mutation in the gene for the enzyme Cathepsin K. It is characterized by short stature, craniofacial dysmorphias, osteosclerosis, and brittle bones. There are only a few reports in the literature describing surgical interventions for long bone fractures in pycnodysostosis patients, most of which describe intramedullary nail treatment of isolated long bone fractures. We describe a case in which a pregnant female with pycnodysostosis presented with a shaft fracture of the left femur following minor trauma and a history of increasing thigh pain. Radiographs obtained in the emergency room also revealed an impending subtrochanteric fracture of the contralateral side. The acute left femoral shaft fracture was treated with an adolescent-sized intramedullary nail; it was decided to defer surgery on the contralateral side until after pregnancy. Three months later, the patient had the contralateral femur prophylactically fixated with a plate and screws. One year after the index surgery, both methods demonstrated satisfactory healing both clinically and radiographically. Although we recommend use of an intramedullary nail for long bone fractures in patients with pycnodysostosis, a plate can be utilized if health conditions or skeletal morphology precludes use of a nail.
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