Pathological femoral fracture in osteopetrosis
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At the time the case was submitted for publication Samir Benoudina had no recorded disclosures.View Samir Benoudina's current disclosures
Fall when walking; with trauma to left thigh.
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Displaced left midshaft femoral fracture.
Diffuse skeletal sclerosis in keeping with known history of osteopetrosis.
This patient was known to suffer from autosomal dominant osteopetrosis.
Osteopetrosis, also called marble bone disease, is a rare hereditary metabolic bone disorder characterized by extremely dense bones throughout the skeleton, caused by diminished osteoclast function.
Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable.
The fractures in patients with osteopetrosis most commonly affect the long bones, caused generally by a minimal trauma.
- 1. Bollerslev J, Andersen PE. Fracture patterns in two types of autosomal-dominant osteopetrosis. (1989) Acta orthopaedica Scandinavica. 60 (1): 110-2. doi:10.3109/17453678909150106 - Pubmed
- 2. Shapiro F. Osteopetrosis. Current clinical considerations. (1993) Clinical orthopaedics and related research. Pubmed