Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report

Hasan Kamak; Gulen Kamak; Ibrahim Yavuz

doi:10.1055/s-0039-1698987

European Journal of Dentistry, Table of Contents

CC BY-NC-ND 4.0 · Eur J Dent 2012; 06(04): 454-459
DOI: 10.1055/s-0039-1698987

Original Article

Dental Investigation Society

Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report

Hasan Kamak

¹Department of Orthodontics, Faculty of Dentistry, Kirikkale University, Kırıkkale, TURKIYE

,

Gulen Kamak

²Department of Periodontology, Faculty of Dentistry, Kırıkkale University, Kırıkkale, TURKIYE

,

Ibrahim Yavuz

³Department of Orthodontics, Faculty of Dentistry, Erciyes University, Kayseri, TURKIYE

› Author Affiliations

Abstract

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ABSTRACT

Pycnodysostosis is a rare genetic disorder and was first described in 1962 by Maroteaux and Lamy. The incidence of this anomaly is estimated to be 1.7 per 1 million births. The principal characteristics of this disorder are short stature, prominent eyes with blue sclera, beaked nose, cranial dysplasia, exposed fontanelles and cranial sutures, clavicular dysplasia, total/partial dysplasia of the terminal phalanges, obtused mandibular gonial angle, and generally increased bone density. Some features of pycnodysostosis are similar to osteopetrosis and cleidocranial dysostosis. Therefore, it must be distinguished from osteopetrosis and cleidocranial dysostosis in order to diagnose it in individuals of a younger age.

The aims of this case report were to show the clinical, radiographic, and diagnostic features, as well as the cephalometric characteristics of pycnodysostosis in comparison with Turkish cephalometric norms. (Eur J Dent 2012;6:454-456)

Key words

Cleidocranial dysostosis - diagnosis - osteopetrosis - pycnodysostosis

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References

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