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Orthognathic surgery in pycnodysostosis: a case report
F Hernández-Alfaro1, J Arenaz Búa, M Serra Serrat
1Department Oral and Maxillofacial Surgery Teknon Medical Center, Barcelona, Spain.
Pycnodysostosis, a rare genetic disorder causing bone fragility, was treated in an 18-year-old female. Bimaxillary orthognathic surgery successfully corrected dentofacial deformities, improving aesthetics and occlusion.
Area of Science:
- Genetics
- Orthodontics
- Osteology
Background:
- Pycnodysostosis is a rare autosomal recessive genetic disorder resulting from cathepsin K deficiency.
- It leads to osteosclerosis and decreased bone turnover, causing skeletal abnormalities.
- Common complications include fractures and jaw osteomyelitis.
Observation:
- An 18-year-old female patient presented with clinical and radiological signs of pycnodysostosis.
- The patient exhibited typical features of the disorder, including skeletal deformities.
Findings:
- The patient underwent bimaxillary orthognathic surgery with rigid fixation and bone grafting.
- The surgical intervention effectively addressed the patient's dentofacial deformities.
Implications:
- Bimaxillary orthognathic surgery is a recommended treatment for pycnodysostosis-related dentofacial deformities.
- The procedure yields stable and favorable outcomes for facial aesthetics and occlusion.
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