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Case Report
HEAD & NECK

Dental and Facial Bone Abnormalities in Pyknodysostosis: CT Findings

K.W. Fleminga, G. Baresta and O. Sakaia

a From the Department of Radiology, Boston University Medical Center, Boston, Mass

Please address correspondence to Keith W. Fleming, MD, New York Presbyterian Hospital/Weill Cornell Medical Center, 525 E. 68th St, New York, NY 10021; e-mail: keithwfleming{at}gmail.com

SUMMARY: Pyknodysostosis is an autosomal-recessive disorder of osteoclast dysfunction causing osteosclerosis, with associated maxillofacial anomalies. Multidetector CT with multiplanar and 3D reconstruction illustrated the pathologic findings in this case. Abnormalities included multiple retained deciduous teeth, unerupted teeth with associated follicles, an irregularly expanded alveolus and body of the mandible, and an obtuse mandibular angle. Volume-rendered imaging better delineated the irregular dentition, with crowding and retention of deciduous teeth.




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