Aghili Hossein, Tabatabaei Seyed Mohammad Ali, Goldani Moghadam Mahdjoube
Faculty of Dentistry, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Faculty of Dentistry, Birjand University of Medical Sciences, Birjand, Iran.
Case Rep Dent. 2017;2017:4352485. doi: 10.1155/2017/4352485. Epub 2017 Nov 26.
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.
致密性成骨不全症（PDO）是一种罕见的遗传性疾病，其特征是组织蛋白酶K缺乏，而组织蛋白酶K在骨代谢中起重要作用。这种疾病的临床特征主要由骨重塑改变引起，包括颅面异常，如下颌骨发育不全和下颌角钝圆，进而导致咽部狭窄和严重打鼾形式的呼吸功能不全。本文报告了另一例这种罕见疾病，并对这些患者呼吸功能不全的病因和管理问题进行了综述。
