Pyknodysostosis : A case report with review of literature
Keywords:
Pyknodysostosis, wormian bones, frontal bossing, rare autosomal recessive disorder
Abstract
The postnatal emergence of short limbs, small stature, and global hyperostosis, combined with acro-osteolysis with sclerosis of the terminal phalanges, are the hallmarks of a rare autosomal recessive ailment called pyknodysostosis. This condition is virtually pathognomonic. The wormian bones, obtuse mandibular gonial angle with relative mandibular prognathism, persistence of fontanelles, delayed closure of sutures, and absence of frontal sinuses are other characteristics. Here, we describe a case of pyknodysostosis that was discovered to exhibit the traditional characteristics both during the general physical examination and intraoral examination.
References
1.Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N Pycnodysostosis with unusual findings: A case report. Cases J 2009;2:6544.
2. Alves Pereira D, Berini Aytés L, Gay Escoda C. Pycnodysos¬tosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13:E633-.
3.Alves N, Cantín M. Clinical and radiographic maxillofacial featu¬res of pycnodysostosis. Int J Clin Exp Med. 2014;7:492-6.
4.Khoja A, Fida M, Shaikh A. Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. Case Rep Dent. 2015;2015:817989
5 .Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual find-ings: a case report. Cases Journal 2009;2:6544.
6 Hernandez-Alfaro F, Arenaz-Bua J, Serra Serrat M, Mareque Bueno J. Orthognathic surgery in pycno-dysostosis: a case report. Int J Oral Maxillofac Surg 2011;40:106-123.
7. Stark Z, Savarirayan R. Review osteopetrosis. Orphanet Journal of Rare Diseases 2009;4:5.
8. Sutton D. Textbook of Radiology and Imaging. 7th ed. Kidlington, Oxford, UK: Churchill Livingstone, 2003:1123-1124.
9. Ihde LL, Forrester DM, Gottsegen CJ, et al. Sclerosing bone dysplasias: Review and differentiation from other causes of osteosclerosis. Radiographics 2011;31:1865-1882.
10. Ferreira Costa AL, De Castro Lopes SL, De Almeida SM, Steiner CE. Pycnodysostosis: An early case report with emphasis on the radiographic findings. I nternet Journal of Dental Science 2006;3:2. 1243 Cancer imaging ad 8 FINAL 4/26/12 1:05 PM Page 1
11.Bathi RJ, Masur VN. Pyknodysostosis—a report of two cases with a brief review of the literature. International journal of oral and maxillofacial surgery. 2000 Dec 1;29(6):439-42.
12.Rajan AR, Singh V, Bhave AA, Joshi CS. Pycnodysostosis: A rare cause of short stature. Med J Armed Forces India 2015;71:393 5.
13 Rohit S, Praveen Reddy B, Sreedevi B, Prakash S. Osteomyelitis in pycnodysostosis – Report of 2 clinical cases. J Clin Diagn Res 2015;9:ZD15 7.
14 Bhardwaj D, Raghav N, Mohan V, Singh P. Pyknodysostosis: A rare case report. J Indian Acad Oral Med Radiol 2015;27:318-21.
15. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, et al. Pycnodysostosis: Mutation spectrum in five unrelated Indian children. Clin Dysmorphol 2016;25:113 20.
16. Muralidhara K, Padanad G, Kumar TSS. Pycnodysostosis: a distinctive brittle bone disease? Int J Res Med Sci 2016;4:5477-80.
17. Subramaniam N, Muthukrishnan A. Pyknodysostosis a case report. J Adv Pharm Educ Res 2017;7:168-70.
18. Dhameliya MD, Dinkar AD, Khorate M, Raut Dessai SS. Pycnodysostosis: Clinicoradiographic report of a rare case. Contemp Clin Dent 2017;8:134 8.
19. Bhoyar N, Garg A, Verma M, Gupta S. Pycnodysostosis with osteomyelitis of maxilla: Case report of radiological analysis. Contemp Clin Dent 2020;11:395 8.
20. Sharma A, Upmanyu A, Parate AR, Kasat VO. Pycnodysostosis a rare disorder with distinctive craniofacial dysmorphia. A case report. J Oral Biol Craniofac Res 2021;11:529 35
21.Yadav A, Dixit C, Malhotra K, Smriti CA. Pycnodysostosis: In the Indian population – A case report with review of the literature. J Prim Care Dent Oral Health 2023;4:108-11.
22. Patil R, Thakuria J, Singh U, Seth V. Unraveling the puzzle: Pycnodysostosis with osteomyelitis – A rare case report of a genetic bone disorder. J Indian Acad Oral Med Radiol 2024;36:74 7
2. Alves Pereira D, Berini Aytés L, Gay Escoda C. Pycnodysos¬tosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13:E633-.
3.Alves N, Cantín M. Clinical and radiographic maxillofacial featu¬res of pycnodysostosis. Int J Clin Exp Med. 2014;7:492-6.
4.Khoja A, Fida M, Shaikh A. Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. Case Rep Dent. 2015;2015:817989
5 .Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual find-ings: a case report. Cases Journal 2009;2:6544.
6 Hernandez-Alfaro F, Arenaz-Bua J, Serra Serrat M, Mareque Bueno J. Orthognathic surgery in pycno-dysostosis: a case report. Int J Oral Maxillofac Surg 2011;40:106-123.
7. Stark Z, Savarirayan R. Review osteopetrosis. Orphanet Journal of Rare Diseases 2009;4:5.
8. Sutton D. Textbook of Radiology and Imaging. 7th ed. Kidlington, Oxford, UK: Churchill Livingstone, 2003:1123-1124.
9. Ihde LL, Forrester DM, Gottsegen CJ, et al. Sclerosing bone dysplasias: Review and differentiation from other causes of osteosclerosis. Radiographics 2011;31:1865-1882.
10. Ferreira Costa AL, De Castro Lopes SL, De Almeida SM, Steiner CE. Pycnodysostosis: An early case report with emphasis on the radiographic findings. I nternet Journal of Dental Science 2006;3:2. 1243 Cancer imaging ad 8 FINAL 4/26/12 1:05 PM Page 1
11.Bathi RJ, Masur VN. Pyknodysostosis—a report of two cases with a brief review of the literature. International journal of oral and maxillofacial surgery. 2000 Dec 1;29(6):439-42.
12.Rajan AR, Singh V, Bhave AA, Joshi CS. Pycnodysostosis: A rare cause of short stature. Med J Armed Forces India 2015;71:393 5.
13 Rohit S, Praveen Reddy B, Sreedevi B, Prakash S. Osteomyelitis in pycnodysostosis – Report of 2 clinical cases. J Clin Diagn Res 2015;9:ZD15 7.
14 Bhardwaj D, Raghav N, Mohan V, Singh P. Pyknodysostosis: A rare case report. J Indian Acad Oral Med Radiol 2015;27:318-21.
15. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, et al. Pycnodysostosis: Mutation spectrum in five unrelated Indian children. Clin Dysmorphol 2016;25:113 20.
16. Muralidhara K, Padanad G, Kumar TSS. Pycnodysostosis: a distinctive brittle bone disease? Int J Res Med Sci 2016;4:5477-80.
17. Subramaniam N, Muthukrishnan A. Pyknodysostosis a case report. J Adv Pharm Educ Res 2017;7:168-70.
18. Dhameliya MD, Dinkar AD, Khorate M, Raut Dessai SS. Pycnodysostosis: Clinicoradiographic report of a rare case. Contemp Clin Dent 2017;8:134 8.
19. Bhoyar N, Garg A, Verma M, Gupta S. Pycnodysostosis with osteomyelitis of maxilla: Case report of radiological analysis. Contemp Clin Dent 2020;11:395 8.
20. Sharma A, Upmanyu A, Parate AR, Kasat VO. Pycnodysostosis a rare disorder with distinctive craniofacial dysmorphia. A case report. J Oral Biol Craniofac Res 2021;11:529 35
21.Yadav A, Dixit C, Malhotra K, Smriti CA. Pycnodysostosis: In the Indian population – A case report with review of the literature. J Prim Care Dent Oral Health 2023;4:108-11.
22. Patil R, Thakuria J, Singh U, Seth V. Unraveling the puzzle: Pycnodysostosis with osteomyelitis – A rare case report of a genetic bone disorder. J Indian Acad Oral Med Radiol 2024;36:74 7
Published
2024-10-21
How to Cite
Vyas, T., Ashaka Gajera, Ravi Gadhiya, & Shailaja Sankireddy. (2024). Pyknodysostosis : A case report with review of literature. UNIVERSITY JOURNAL OF DENTAL SCIENCES, 10(4). https://doi.org/10.21276/ujds.2024.10.4.7
Section
Case Reports
