Imaging Science in Dentistry

Korean Academy of Oral and Maxillofacial Radiology (대한영상치의학회)
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Clinical and radiographic characteristics of pycnodysostosis: A systematic review

  • Amanda Katarinny Goes Gonzaga (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Carla Samily de Oliveira Costa (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Hannah Gil de Farias Morais (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Brazm da Fonseca Neto (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Leao Pereira Pinto (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Wagner Ranier Maciel Dantas (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Patricia Teixeira de Oliveira (Postgraduate Program in Dental Sciences, Department of Dentistry, Federal University of Rio Grande do Norte) ;
  • Daniela Pita de Melo (Graduate Program in Dentistry, Department of Dentistry, State University of Paraiba)
  • Received : 2023.09.02
  • Accepted : 2023.10.27
  • Published : 2024.03.31
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Abstract

Purpose: Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods: A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results: The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses(82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion: Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

Keywords

Acknowledgement

This study was supported by the Postgraduate Program in Oral Pathology of UFRN and by Coordination for the Improvement of Higher Education Personnel (CAPES). RAF is the recipient of a productivity fellowship from CNPq.

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