J Korean Assoc Oral Maxillofac Surg.  2020 Feb;46(1):70-77. 10.5125/jkaoms.2020.46.1.70.

Osteogenesis imperfecta and combined orthodontics and orthognathic surgery: a case report on two siblings

Affiliations
  • 1Department of Oral and Maxillofacial Surgery, Asan Medical Center, Seoul, Korea. mfsjjh@unitel.co.kr
  • 2Private Clinic, Seoul, Korea.

Abstract

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.

Keyword

Osteogenesis imperfecta; Orthognathic surgery

MeSH Terms

Congenital Abnormalities
Connective Tissue Diseases
Facial Asymmetry
Humans
Orthodontics*
Orthognathic Surgery*
Osteogenesis Imperfecta*
Osteogenesis*
Prognathism
Siblings*

Figure

  • Fig. 1 Preoperative intraoral photographs of Case 1 patient.

  • Fig. 2 Preoperative cephalometric (A, B), panoramic (C), and facial views (D, E) of Case 1 patient.

  • Fig. 3 Photographs on postoperative 9 days of Case 1 patient; Ecchymosis and abnormal edema (A), subconjunctival hemorrhage, blue sclera (B).

  • Fig. 4 Intraoral photographs on debonding of Case 1 patient.

  • Fig. 5 Cephalometric (A, B) and facial views (C, D) on debonding of Case 1 patient.

  • Fig. 6 Preoperative intraoral photographs of Case 2 patient.

  • Fig. 7 Preoperative cephalometric (A), panoramic (B), and facial views (C, D) of Case 2 patient and her blue sclera (E) can be seen.

  • Fig. 8 Intraoral photographs on debonding of Case 2 patient.

  • Fig. 9 Cephalometric (A), panoramic (B), and facial views (C, D) of Case 2 patient.


Reference

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16:101–116. PMID: 458828.
Article
2. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007; 28:209–221. PMID: 17078022.
Article
3. Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet. 1998; 62:98–110. PMID: 9443882.
Article
4. Tournis S, Dede AD. Osteogenesis imperfecta: a clinical update. Metabolism. 2018; 80:27–37. PMID: 28625337.
5. Rosén A, Modig M, Larson O. Orthognathic bimaxillary surgery in two patients with osteogenesis imperfecta and a review of the literature. Int J Oral Maxillofac Surg. 2011; 40:866–873. PMID: 21459557.
Article
6. Osteogenesis imperfecta: the brittle bone syndrome. Nurs RSA. 1987; 2:17–23. 40
7. O'Connell AC, Marini JC. Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999; 87:189–196. PMID: 10052375.
8. Schwartz S, Tsipouras P. Oral findings in osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol. 1984; 57:161–167. PMID: 6583624.
Article
9. Chang PC, Lin SY, Hsu KH. The craniofacial characteristics of osteogenesis imperfecta patients. Eur J Orthod. 2007; 29:232–237. PMID: 16971690.
Article
10. Waltimo-Sirén J, Kolkka M, Pynnönen S, Kuurila K, Kaitila I, Kovero O. Craniofacial features in osteogenesis imperfecta: a cephalometric study. Am J Med Genet A. 2005; 133A:142–150. PMID: 15666304.
Article
11. Aizenbud D, Peled M, Figueroa AA. A combined orthodontic and surgical approach in osteogenesis imperfecta and severe Class III malocclusion: case report. J Oral Maxillofac Surg. 2008; 66:1045–1053. PMID: 18423300.
Article
12. Tashima H, Wattanawong K, Ho CT, Wen-Ching-Ko E, Nguyen A, Lo LJ. Orthognathic surgery considerations for patients with undiagnosed type I osteogenesis imperfecta. J Oral Maxillofac Surg. 2011; 69:2233–2241. PMID: 21398007.
Article
13. Ormiston IW, Tideman H. Orthognathic surgery in osteogenesis imperfecta: a case report with management considerations. J Craniomaxillofac Surg. 1995; 23:261–265. PMID: 7560115.
Article
14. Cole NL, Goldberg MH, Loftus M, Kwok V. Surgical management of patients with osteogenesis imperfecta. J Oral Maxillofac Surg. 1982; 40:578–584. PMID: 6955473.
Article
15. Morton ME. Excessive bleeding after surgery in osteogenesis imperfecta. Br J Oral Maxillofac Surg. 1987; 25:507–511. PMID: 3500744.
Article
16. Bell RB, White RP Jr. Osteogenesis imperfecta and orthognathic surgery: case report with long-term follow-up. Int J Adult Orthodon Orthognath Surg. 2000; 15:171–178. PMID: 11307196.
17. Keegan MT, Whatcott BD, Harrison BA. Osteogenesis imperfecta, perioperative bleeding, and desmopressin. Anesthesiology. 2002; 97:1011–1013. PMID: 12357173.
Article
18. Kindelan J, Tobin M, Roberts-Harry D, Loukota RA. Orthodontic and orthognathic management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta: a case report. J Orthod. 2003; 30:291–296. PMID: 14634166.
Article
19. Lindahl K, Langdahl B, Ljunggren Ö, Kindmark A. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol. 2014; 171:R79–R90. PMID: 24760541.
20. Eghbali-Fatourechi G. Bisphosphonate therapy in pediatric patients. J Diabetes Metab Disord. 2014; 13:109. PMID: 25551100.
Article
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