Pycnodysostosis - A Rare Case Report

Pycnodysostosis is a rare sclerosing skeletal dysplasia, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed due to pathological bone fractures .Short stature , facial morphological characteristics, certain radiological features aids in the diagnosis. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis includes osteopetrosis, cleidocranial dysplasia, Engelmans disease and idiopathic acro-osteolysis. We report a case of pycnodysostosis who presented as a pathological fracture femur and review its clinical and radiographic features with the literature.