Spontaneous Atlas Fracture in a Patient with Pycnodysostosis and Mandibular Osteomyelitis: A Case Report
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Pycnodysostosis is a rare autosomal recessive syndrome with an incidence of 1 in 1.7 million, caused by mutations in the CTSK gene, located on chromosome 1q21. We present a case of pycnodysostosis in a 30-year-old male patient who developed osteomyelitis of the jaw and an unusual fracture of the atlas, representing the first description of this complication. Patients with Pycnodysostosis, besides osteomyelitis, may seek maxillofacial attention for bone distraction assessment or orthognathic surgery. Therefore, we emphasize the importance of a thorough cervical assessment before any intervention.
