Author/Authors :
Aghili, Hossein Faculty of Dentistry - Shahid Sadoughi University of Medical Sciences, Yazd, Iran , Tabatabaei, Mohammad Ali Faculty of Dentistry - Birjand University of Medical Sciences, Birjand, Iran , Goldani Moghadam, Mahdjoube Faculty of Dentistry - Birjand University of Medical Sciences, Birjand, Iran
Abstract :
Pycnodysostosis (PDO) is a rare genetic disorder characterized by cathepsin K de4ciency 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 insu8ciency 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 insu8ciency in these patients.
