Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems

Hossein Aghili,Mahdjoube Goldani Moghadam,Seyed Mohammad Ali Tabatabaei

doi:10.1155/2017/4352485

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.

Highlights

Pycnodysostosis (PDO) is a rare genetic disorder with less than 200 patients a ected worldwide [1]
Muto and colleagues found that the measurements of Ba-PNS, C3-Me, and Hy-mandibular plane (ML) which form a frame encompassing the pharyngeal airway space were small in their PDO cases [7]
An interesting nding which has been reported in several cases of PDO patients is long soft palate in spite of maxillary and mandibular de ciencies [7, 16,17,18]. e case presented in this paper was another example with similar ndings: a long soft palate along with hypoplasia of maxilla and mandible

Summary

Introduction

Pycnodysostosis (PDO) is a rare genetic disorder with less than 200 patients a ected worldwide [1]. It was rst described as a distinct entity by Maroteaux and Lamy in 1962 [2]. E responsible gene is CTSK which maps to chromosome 1q21 and encodes cathepsin K, a lysosomal cystine protease Impaired function of this critical enzyme for bone remodeling and resorption by osteoclasts leads to the fragile and sclerosing nature of the bone in a ected patients [3]. E objective of this paper is to report on a case of pycnodysostosis with severe snoring and to discuss etiology and management issues of respiratory insu ciency in these patients. Little attention has been paid to respiratory problems of PDO su erers and the craniofacial related causative factors of the problems are not su ciently studied

Case Report

Discussion

Conclusion