Original Research Paper

Pycnodysostosis: In Indian Population - A Case Report With Review Of The Literature.

Abstract :

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. Pyknodysostosis 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, cleidocranial dysplasia. Recognition of these signs is important in order to make a diagnosis and prevent further complications. We report a case of a 24-years 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.

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