A case of pycnodysostosis – Review of classical imaging findings with craniosynostosis – A rare association

Abstract

Pycnodysostosis is a rare skeletal dysplasia, which is characterized by disproportionate short stature, craniofacial abnormalities such as frontal and occipital bossing, small face, beaked nose, hypoplastic mandible, abnormal dentition, and hypoplastic terminal fingers and toes. In addition to these, the hypoplastic lateral end of clavicle, diffuse bone sclerosis, and segmentation anomalies of the spine are also reported. Although classical clinical findings may be present, imaging plays an important role in the diagnosis of this condition by ruling out other osteosclerotic skeletal dysplasias.