Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems
Hossein Aghili1, Seyed Mohammad Ali Tabatabaei2, Mahdjoube Goldani Moghadam2
1Faculty of Dentistry, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Abstract:
Pycnodysostosis (PDO) is a rare genetic disorder characterized by cathepsin K deficiency which plays an important role in bone metabolism. Among clinical features of this disease which are mainly caused by altered bone remodeling are craniofacial abnormalities such as hypoplastic maxilla and obtuse gonial angle which consequently lead to respiratory insufficiency in forms of pharyngeal narrowing and severe snoring. In this paper, another case of this rare disorder is presented along with a review on etiology and management issues of respiratory insufficiency in these patients.
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