ORAL AND MAXILLOFACIAL ALTERATIONS IN PATIENTS WITH PYCNODYSOSTOSIS: 2 CASE REPORTS

Pycnodysostosis is a rare, autosomal recessive genetic condition that causes a decrease in bone remodeling due to a mutation in the cathepsin K gene, resulting in clinical and radiographic manifestations, characteristic of the syndrome. This report aims to describe 2 clinical cases of pycnodysostosis with orofacial involvement. The patients had a short stature, height ranging from 134 cm to 152 cm, stunted extremities, open fontanelles and cranial sutures, osteosclerosis, and medical history of repeated fractures in the left tibia, associated with small impact traumas. In the buccomaxillofacial complex, absence of pneumatization of the facial sinuses, maxillary osteomyelitis after dental extraction, maxillary atresia, increased mandibular angle, and enamel hypoplasia were related. It is concluded that the knowledge of clinical, radiographic, and oral and maxillofacial findings of this syndrome are important for the diagnosis and treatment of patients in the multiprofessional context, thus avoiding complications arising from dental procedures.