Rodrigues C, Gomes FA, Arruda JA, Silva L, Álvares P, da Fonte P, Sobral AP, Silveira M. Clinical and radiographic features of pycnodysostosis: A case report. J Clin Exp Dent. 2017;9(10):e1276-81.

 

doi:10.4317/jced.54105

http://dx.doi.org/doi:10.4317/jced.54105

 

References

1. Terrazas K, Dixon J, Trainor PA, Dixon MJ. Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. Wiley Interdiscip Rev Dev Biol. 2017;6.
https://doi.org/10.1002/wdev.263

 

2. Elmore SM. Pycnodysostosis: A review. J Bone Joint Surg Am. 1967;49:153–62.
https://doi.org/10.2106/00004623-196749010-00015

 

3. Bonafé L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015;167A:2869–92.
https://doi.org/10.1002/ajmg.a.37365
PMid:26394607

 

4. Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996;273:1236–8.
https://doi.org/10.1126/science.273.5279.1236
PMid:8703060

 

5. Wen X, Yi LZ, Liu F, Wei JH, Xue Y. The role of cathepsin K in oral and maxillofacial disorders. Oral Dis. 2016;22:109–15.
https://doi.org/10.1111/odi.12378
PMid:26458004

 

6. Alves Pereira D, Berini Aytés L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13:E633–5.
PMid:18830170

 

7. Alves N, Cantín M. Clinical and radiographic maxillofacial features of pycnodysostosis. Int J Clin Exp Med. 2014;7:492–6.
PMid:24753741 PMCid:PMC3992386

 

8. 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;72:449–55.
https://doi.org/10.1016/0030-4220(91)90559-U

 

9. Khoja A, Fida M, Shaikh A. Pycnodysostosis with Special Emphasis on Dentofacial Characteristics. Case Rep Dent. 2015;2015:817989.
https://doi.org/10.1155/2015/817989

 

10. Kamak H, Kamak G, Yavuz I. Clinical, radiographic, diagnostic and cephalometric features of pycnodysostosis in comparison with Turkish cephalometric norms: A case report. Eur J Dent. 2012;6:454–9.
PMid:23077428 PMCid:PMC3474563

 

11. Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford University Press, California, 1959.

 

12. Martins JCR, Sakima T. Considerações sobre a previsão do surto de crescimento puberal. Ortodontia. 1977;10:164–70.

 

13. Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: a case report. Cases J. 2009;2:6544.
https://doi.org/10.4076/1757-1626-2-6544
PMid:19829823 PMCid:PMC2740175

 

14. Ortegosa MV, Bertola DR, Aguena M, Passos-Bueno MR, Kim CA, de Faria ME. Challenges in the orthodontic treatment of a patient with pycnodysostosis. Cleft Palate Craniofac J. 2014;51:735–9.
https://doi.org/10.1597/12-233
PMid:23786531

 

15. Girbal I, Nunes T, Medeira A, Bandeira T. Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case. BMJ Case Rep. 2013;2013. pii: bcr2013200590.

 

16. Rojas PI, Niklitschek NE, Sepúlveda MF. [Multiple long bone fractures in a child with pycnodysostosis. A case report].Arch Argent Pediatr. 2016;114:e179–83.
PMid:27164353

 

17. Kamat S, Sankar K, Eswari NJ, Gahlawat V, Jude BN, Negi A. Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy. J Nat Sci Biol Med. 2015;6:464–7.
https://doi.org/10.4103/0976-9668.160043
PMid:26283855 PMCid:PMC4518435

 

18. Frota R, Linard RA, de Oliveira e Silva ED, Antunes AA, Carvalho RW, Santos Tde S. Mandibular osteomyelitis and fracture in a patient with pyknodysostosis. J Craniofac Surg. 2010;21:787–9.
https://doi.org/10.1097/SCS.0b013e3181d7f2b0
PMid:20485049

 

19. Kato H, Matsuoka K, Kato N, Ohkubo T. Mandibular osteomyelitis and fracture successfully treated with vascularised iliac bone graft in a patient with pycnodysostosis. Br J Plast Surg. 2005;58:263–6.
https://doi.org/10.1016/j.bjps.2004.10.023
PMid:15710125

 

20. Barnard B, Hiddema W. Pycnodysostosis with the focus on clinical and radiographic findings. S Afr J Rad. 2012;16:74–6.
https://doi.org/10.4102/sajr.v16i2.313

 

21. Kirita T, Sugiura T, Horiuchi K, Morimoto Y, Yazima H, Sugimura M. Mandibular reconstruction using a vascularised fibula osteocutaneous flap in a patient with pyknodysostosis. Br J Plast Surg. 2001;54:712–4.
https://doi.org/10.1054/bjps.2001.3708
PMid:11728116

 

22. Song HK, Sohn YB, Choi YJ, Chung YS, Jang JH. A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes. Medicine (Baltimore). 2017;96:e6367.
https://doi.org/10.1097/MD.0000000000006367
PMid:28328823 PMCid:PMC5371460

 

23. Maroteaux P, Lamy M. [Pyknodysostosis]. Presse Med. 1962;70:999–1002.
PMid:14470123

 

24. Fleming KW, Barest G, Sakai O. Dental and facial bone abnormalities in pyknodysostosis: CT findings. AJNR Am J Neuroradiol. 2007;28:132–4.
PMid:17213440

 

25. Xue Y, Cai T, Shi S, et al. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.Orphanet J Rare Dis. 2011;6:20.
https://doi.org/10.1186/1750-1172-6-20
PMid:21569238 PMCid:PMC3113317

 

26. Pangrazio A, Puddu A, Oppo M, et al. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone. 2014;59:122–6.
https://doi.org/10.1016/j.bone.2013.11.014
PMid:24269275 PMCid:PMC3885796

 

27. Hernández-Alfaro F, Arenaz Búa J, Serra Serrat M, Mareque Bueno J. Orthognathic surgery in pycnodysostosis: a case report. Int J Oral Maxillofacial Surg. 2011;40:110–13.
https://doi.org/10.1016/j.ijom.2010.07.006
PMid:20728312