Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature

Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decr...

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Bibliographic Details
Main Authors: Anuradha Yadav, Chitrang Dixit, Kajal Malhotra, C A Smriti
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Journal of Primary Care Dentistry and Oral Health
Subjects:
Online Access:http://www.jpcdoh.org/article.asp?issn=2772-3534;year=2023;volume=4;issue=3;spage=108;epage=115;aulast=Yadav
Description
Summary:Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We report a case of a 24-year-old male, who presented with a chief complaint of dirty and malaligned teeth and was unhappy with his facial appearance. General examination features which drew attention were short stature, beaking of the nose, and frontal and parietal bossing. Radiographically, open fontanelles, wormian bones, and dental abnormalities were evident.
ISSN:2772-3534
2772-3542