PDF herunterladen
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
1   Department of Orthodontics, Faculty of Dentistry, Kirikkale University, Kırıkkale, TURKIYE
,
Gulen Kamak
2   Department of Periodontology, Faculty of Dentistry, Kırıkkale University, Kırıkkale, TURKIYE
,
Ibrahim Yavuz
3   Department of Orthodontics, Faculty of Dentistry, Erciyes University, Kayseri, TURKIYE
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
30. September 2019 (online)

  als PDF herunterladen Lizenzen und Reprints

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
 

  • References

  • 1 Helms CA. Metabolic bone disease. In: Brant WE, Helms CA, eds. Fundamentals of Diagnostic Radiology. Philadelphia: Lippincott Williams & Wilkins 1999:1049-1059.
  • 2 Maroteaux P, Lamy M. [Pyknodysostosis.]. Presse Med 1962;70:999-1002.
  • 3 Bathi RJ, Masur VN. Pyknodysostosis--a report of two cases with a brief review of the literature. Int J Oral Maxillofac Surg 2000;29:439-442.
  • 4 Hunt NP, Cunningham SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodysostosis: a report of three new cases. J Oral Maxillofac Surg 1998;56:497-504.
  • 5 Landa S, Esteban S, Montes E, Santamaria J, Vitoria A, Santolaya JM. Maxillofacial alterations in a family with pycnodysostosis. Med Oral 2000;5:169-176.
  • 6 Gazilerli U. The Steiner norms between 13-16 years old Turkish children with the normal occlusion on the region of Ankara. (Master Thesis) Ankara University, Turkey 1976.
  • 7 Beighton P, Horan F, Hamersma H. A review of the osteopetroses. Postgrad Med J 1977;53:507-516.
  • 8 Glass RB, Fernbach SK, Norton KI, Choi PS, Naidich TP. The infant skull: a vault of information. Radiographics 2004;24:507-522.
  • 9 Norholt SE, Bjerregaard J, Mosekilde L. Maxillary distraction osteogenesis in a patient with pycnodysostosis: a case report. J Oral Maxillofac Surg 2004;62:1037-1040.
  • 10 O'Connell AC, Brennan MT, Francomano CA. Pycnodysostosis: orofacial manifestations in two pediatric patients. Pediatr Dent 1998;20:204-207.
  • 11 Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM. Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 2001;50:905-911.
  • 12 Jones CM, Rennie JS, Blinkhorn AS. Pycnodysostosis. A review of reported dental abnormalities and a report of the dental findings in two cases. Br Dent J 1988;164:218-220.
  • 13 Muto T, Michiya H, Taira H, Murase H, Kanazawa M. Pycnodysostosis. Report of a case and review of the Japanese literature, with emphasis on oral and maxillofacial findings. Oral Surg Oral Med Oral Pathol 1991;72:449-455.
  • 14 Muto T, Yamazaki A, Takeda S, Tsuji Y, Shibata T. Pharyngeal narrowing as a common feature in pycnodysostosis-a cephalometric study. Int J Oral Maxillofac Surg 2005;34:680-685.
  • 15 Fonteles CS, Chaves CM, Jr., Da Silveira A, Soares EC, Couto JL, de Azevedo Mde F. Cephalometric characteristics and dentofacial abnormalities of pycnodysostosis: report of four cases from Brazil. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;104:e83-90.
  • 16 Wolpowitz A, Matisonn A. A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acroosteolysis. S Afr Med J 1974;48:1011-1018.
  • 17 Emami-Ahari Z, Zarabi M, Javid B. Pycnodysostosis. J Bone Joint Surg Br 1969;51:307-312.
  • 18 Yeo TC. Pycnodysostosis--report of a case. Singapore Med J 1988;29:611-616.
  • 19 Kneal E, Sante LR. Osteopetrosis (marble bones); report of a case with special reference to early roentgenologic and pathological findings. AMA Am J Dis Child 1951;81:693-707.
  • 20 Forland M. Cleidocranial dysostosis. A review of the syndrome and report of a sporadic case, with herediatary transmission. Am J Med 1962;33:792-799.
  • 21 Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab 2004;89:1538-1547.
  • 22 Iwu CO. Bilateral osteomyelitis of the mandible in pycnodysostosis. A case report. Int J Oral Maxillofac Surg 1991;20:71-72.