Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings

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...

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Autores principales:	Alves,N, Oliveira,R. J, Deana,N. F, Sampaio,J. C. A
Lenguaje:	English
Publicado:	Sociedad Chilena de Anatomía 2013
Materias:	Pycnodysostosis Morphology Radiography
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000300024
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spelling	oai:scielo:S0717-950220130003000242013-12-03Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial FindingsAlves,NOliveira,R. JDeana,N. FSampaio,J. C. A Pycnodysostosis Morphology Radiography 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.info:eu-repo/semantics/openAccessSociedad Chilena de AnatomíaInternational Journal of Morphology v.31 n.3 20132013-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000300024en10.4067/S0717-95022013000300024
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Pycnodysostosis Morphology Radiography
spellingShingle	Pycnodysostosis Morphology Radiography Alves,N Oliveira,R. J Deana,N. F Sampaio,J. C. A Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
description	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.
author	Alves,N Oliveira,R. J Deana,N. F Sampaio,J. C. A
author_facet	Alves,N Oliveira,R. J Deana,N. F Sampaio,J. C. A
author_sort	Alves,N
title	Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
title_short	Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
title_full	Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
title_fullStr	Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
title_full_unstemmed	Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings
title_sort	morphological features of pycnodysostosis with emphasis on clinical and radiographic maxillofacial findings
publisher	Sociedad Chilena de Anatomía
publishDate	2013
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000300024
work_keys_str_mv	AT alvesn morphologicalfeaturesofpycnodysostosiswithemphasisonclinicalandradiographicmaxillofacialfindings AT oliveirarj morphologicalfeaturesofpycnodysostosiswithemphasisonclinicalandradiographicmaxillofacialfindings AT deananf morphologicalfeaturesofpycnodysostosiswithemphasisonclinicalandradiographicmaxillofacialfindings AT sampaiojca morphologicalfeaturesofpycnodysostosiswithemphasisonclinicalandradiographicmaxillofacialfindings
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Morphological Features of Pycnodysostosis with Emphasis on Clinical and Radiographic Maxillofacial Findings

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