Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
DOI : http://dx.doi.org/10.4067/S0717-95022013000300024
Alves, N.; Oliveira, R. J.; Deana, N. F. & Sampaio, J. C. A.
Pycnodysostosis is a rare genetic syndrome characterized by short stature, obtuse mandibular angle, frontal, parietal and occipital bossing, open fontanels and cranial sutures, midfacial hypoplasia, acro-osteolysis of the distal phalanges, increased bone density, absence or hipopneumatization of the paranasal sinuses and normal laboratory studies. We report the case of a 35-year-old Brazilian man that was referred to a private clinic with history of dysmorphic facies for evaluation. The clinical and radiological features exhibited by the patient led to a diagnosis of pycnodysostosis. We describe the morphological features of pycnodysostosis with emphasis on the clinical and radiographic maxillofacial findings comparing the data obtained from our case with a literature review.
KEY WORDS: Pycnodysostosis; Morphology; Radiography.
How to cite this article
ALVES, N.; OLIVEIRA, R. J.; DEANA, N. F. & SAMPAIO, J. C. A. Morphological features of pycnodysostosis with emphasis on clinical and radiographic maxillofacial findings. Int. J. Morphol., 31(3):921-924, 2013.