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Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report
Clinical Orthopaedics and Related Research
|June 1, 1976
Summary
Bilateral subtrochanteric fractures in a woman led to the diagnosis of pycnodysostosis, a rare osteosclerotic disease. Successful surgical hip operations showed good bone healing and no daily activity limitations after three years.
Area of Science:
- Orthopedics
- Genetics
- Radiology
Background:
- Subtrochanteric fractures are rare, accounting for only 5% of all femoral fractures.
- Bilateral occurrence in a relatively young patient suggests an underlying condition.
Observation:
- A 50-year-old multiparous woman presented with bilateral subtrochanteric fractures within 9 months.
- Radiographic findings included osteosclerotic femora, hypoplastic claviculae, absent ungual tufts, hypoplastic paranasal sinuses, and obtuse mandibular angles.
- Clinical and laboratory investigations ruled out systemic, metabolic, infectious, or malignant diseases.
Findings:
- The patient's presentation, including short stature and facial features, alongside bone density abnormalities, suggested pycnodysostosis.
- Pycnodysostosis is a rare autosomal recessive osteosclerotic condition with fewer than 50 reported cases.
Implications:
- This case highlights pycnodysostosis as a potential cause of unusual fractures in the absence of other identifiable diseases.
- Despite surgical challenges, the patient achieved good bone consolidation and functional recovery, demonstrating positive outcomes for pycnodysostosis patients.
- Early diagnosis and appropriate management are crucial for improving the quality of life for individuals with this rare genetic disorder.