A case report of pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging

Abstract

Pyknodysostosis is an extremely rare autosomal recessive genetic osteosclerotic disorder caused by cathepsin K deficiency leading to decrease in the bone turnover. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis. Multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We describe a 28-year-old male with clinically as well as radiologically multislice computed tomography (CT) and panoramic studies of pyknodysostosis. The purpose of multislice CT of the jaw was to understanding of the complete abnormal facial anatomy and is useful for planning of tooth extraction and/or implantation of prosthetics as well as to know earlier changes of dental abscess and/or carries development.

Keywords

• Acro-osteolysis
• cleidocranial dysplasia
• osteochondrodysplasia
• pyknodysostosis