Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Dentistry
Volume 2013 (2013), Article ID 707343, 8 pages
http://dx.doi.org/10.1155/2013/707343
Case Report

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

1Department of Oral Medicine and Radiology, Manav Rachna Dental College, Sector 43, Aravalli Hills, Delhi-Surajkund Road, Faridabad, Haryana 121001, India
2Department of Oral Medicine and Radiology, Sharad Pawar Dental College and Hospital, Sawangi, Wardha, Maharashtra 442001, India

Received 22 June 2013; Accepted 27 August 2013

Academic Editors: D. W. Boston, R. S. Brown, M. B. D. Gaviao, M. A. d. A. M. Machado, and S. R. Watt-Smith

Copyright © 2013 Priyanka Kant et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. H. E. Albers-Schonberg, “Rontgenbilder einer seltenen Knockenerkrankung,” Munchener Medizinische Wochenschrift, vol. 5, pp. 365–368, 1904. View at Google Scholar
  2. A. Superti-Furga, S. Unger, and The Nosology Group of the International Skeletal Dysplasia Society, “Nosology and classification of genetic skeletal disorders: 2006 revision,” American Journal of Medical Genetics A, vol. 143, no. 1, pp. 1–18, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. N. K. Wood and P. W. Goaz, Differential Diagnosis of Oral and Maxillofacial Lesions, Mosby, St. Louis, Mo, USA, 5th edition, 1991.
  4. S. C. White and M. J. Pharoah, Oral Radiology Principles and Interpretataion, Mosby, Philadelphia, Pa, USA, 6th edition, 2009.
  5. S. C. Marks Jr., “Pathogenesis of osteopetrosis in the ia rat: reduced bone resorption due to reduced osteoclast function,” The American Journal of Anatomy, vol. 138, no. 2, pp. 165–189, 1973. View at Publisher · View at Google Scholar · View at Scopus
  6. B. H. Schofield, L. S. Levin, and S. B. Doty, “Ultrastructure and lysosomal histochemistry of ia rat osteoclasts,” Calcified Tissue Research, vol. 14, no. 1, pp. 153–160, 1974. View at Publisher · View at Google Scholar · View at Scopus
  7. K. Nagahama, K. Aoki, K. Nonaka et al., “The deficiency of immunoregulatory receptor PD-1 causes mild osteopetrosis,” Bone, vol. 35, no. 5, pp. 1059–1068, 2004. View at Publisher · View at Google Scholar · View at Scopus
  8. J. Bollerslev and P. E. Andersen Jr., “Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis,” Bone, vol. 9, no. 1, pp. 7–13, 1988. View at Google Scholar · View at Scopus
  9. D. K. Lam, G. K. B. Sándor, H. I. Holmes, R. P. Carmichael, and C. M. L. Clokie, “Marble bone disease: a review of osteopetrosis and its oral health implications for dentists,” Journal of the Canadian Dental Association, vol. 73, no. 9, pp. 839–843, 2007. View at Google Scholar · View at Scopus
  10. S. G. Kahler, J. A. Burns, and A. S. Aylsworth, “A mild autosomal recessive form of osteopetrosis,” American Journal of Medical Genetics, vol. 17, no. 2, pp. 451–464, 1984. View at Google Scholar · View at Scopus
  11. R. Loria Cortes, E. Quesada Calvo, and C. Cordero Chaverri, “Osteopetrosis in children: a report of 26 cases,” Journal of Pediatrics, vol. 91, no. 1, pp. 43–47, 1977. View at Google Scholar · View at Scopus
  12. Z. Stark and R. Savarirayan, “Osteopetrosis,” Orphanet Journal of Rare Diseases, vol. 4, article 5, 2009. View at Publisher · View at Google Scholar · View at Scopus
  13. M. Öǧütcen-Toller, M. Tek, I. Şener, C. Bereket, S. Inal, and B. Özden, “Intractable bimaxillary osteomyelitis in osteopetrosis: review of the literature and current therapy,” Journal of Oral and Maxillofacial Surgery, vol. 68, no. 1, pp. 167–175, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. K. Henriksen, J. Gram, P. Hoegh-Andersen et al., “Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo,” The American Journal of Pathology, vol. 167, no. 5, pp. 1341–1348, 2005. View at Google Scholar · View at Scopus
  15. E. Van Hul, J. Gram, J. Bollerslev et al., “Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13,” Journal of Bone and Mineral Research, vol. 17, no. 6, pp. 1111–1117, 2002. View at Google Scholar · View at Scopus
  16. O. D. Bénichou, J. D. Laredo, and M. C. de Vernejoul, “Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients,” Bone, vol. 26, no. 1, pp. 87–93, 2000. View at Publisher · View at Google Scholar · View at Scopus
  17. E. Tohidi and A. Bagherpour, “Clinicoradiological findings of benign osteopetrosis: report of two new cases,” Journal of Dental Research, Dental Clinics, Dental, vol. 6, no. 4, pp. 152–157, 2012. View at Google Scholar
  18. K. Chu, R. Snyder, and M. J. Econs, “Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties,” Journal of Bone and Mineral Research, vol. 21, no. 7, pp. 1089–1097, 2006. View at Publisher · View at Google Scholar · View at Scopus
  19. A. Del Fattore, B. Peruzzi, N. Rucci et al., “Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment,” Journal of Medical Genetics, vol. 43, no. 4, pp. 315–325, 2006. View at Publisher · View at Google Scholar · View at Scopus
  20. E. Cleiren, O. Bénichou, E. Van Hul et al., “Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene,” Human Molecular Genetics, vol. 10, no. 25, pp. 2861–2867, 2001. View at Google Scholar · View at Scopus
  21. S. G. Waguespack, S. L. Hui, L. A. DiMeglio, and M. J. Econs, “Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation,” Journal of Clinical Endocrinology & Metabolism, vol. 92, no. 3, pp. 771–778, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. B. M. Rashid, N. G. Rashid, A. Schulz, G. Lahr, and B. F. Nore, “A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series,” Journal of Medical Case Reports, vol. 7, article 7, 2013. View at Publisher · View at Google Scholar
  23. E. Cleiren, O. Bénichou, E. Van Hul et al., “Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene,” Human Molecular Genetics, vol. 10, no. 25, pp. 2861–2867, 2001. View at Google Scholar · View at Scopus
  24. T. El-Tawil and D. J. Stoker, “Benign osteopetrosis: a review of 42 cases showing two different platterns,” Skeletal Radiology, vol. 22, no. 8, pp. 587–593, 1993. View at Google Scholar · View at Scopus
  25. J. Bollerslev and P. E. Andersen Jr., “Fracture patterns in two types of autosomal-dominant osteopetrosis,” Acta Orthopaedica Scandinavica, vol. 60, no. 1, pp. 110–112, 1989. View at Google Scholar · View at Scopus
  26. C. M. Garcia, M. A. P. Garcia, R. G. Garcia, and F. M. Gil, “Osteomyelitis of the mandible in a patient with osteopetrosis. Case report and review of literarure,” Journal of Oral and Maxillofacial Surgery, vol. 3, no. 1, pp. 120–125, 2011. View at Google Scholar
  27. C. Krithika, R. S. Neelakandan, B. Sivapathasundaram, D. Koteeswaran, P. C. Rajaram, and G. S. Shetkar, “Osteopetrosis-associated osteomyelitis of the jaws: a report of 4 cases,” Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology, vol. 108, no. 3, pp. e56–e65, 2009. View at Publisher · View at Google Scholar · View at Scopus