Multiple long bone fractures in a man with pycnodysostosis; a case report

Abstract

Pycnodysostosis is a rare genetic disease that is diagnosed in childhood however in very rare conditions, maybe diagnosed in adulthood. It is presented by dental malformation, short stature and short extremities, multiple fractures with low-pressure forces, and some other manifestations. In this case report, we present a patient with typical pycnodysostosis manifestations including a hard palatine groove, poor hygiene oral situation, dental malformation, and several fractures with a low threshold pressure.

Keywords: Pycnodysostosis, Multiple fractures, Short stature, Osteopetrosis