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International Journal of Morphology

On-line version ISSN 0717-9502

Abstract

ALVES, N; OLIVEIRA, R. J; DEANA, N. F  and  SAMPAIO, J. C. A. Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings. Int. J. Morphol. [online]. 2013, vol.31, n.3, pp.921-924. ISSN 0717-9502.  http://dx.doi.org/10.4067/S0717-95022013000300024.

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.

Keywords : Pycnodysostosis; Morphology; Radiography.

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