Celso B Rizzi Junior¹*, Bruno M Leal², Lucas L. Passos³ and Ana Luzia B de Almeida⁴

¹Pediatric Orthopedist Doctor, Hospital Federal dos Servidores, Brazil
²Resident Doctor, Hospital Federal dos Servidores, Brazil
³Medical Student, Estacio de Sá University- Rio de Janeiro, Brazil
⁴Anatomo Pathologist, National Institute of Traumatology and Orthopedics, Brazil

*Corresponding Author: Celso B Rizzi Junior, Pediatric Orthopedist Doctor, Hospital Federal dos Servidores, Brazil.

Received: October 18, 2023; Published: December 07, 2023

Abstract

Osteogenesis Imperfecta is a hereditary disease, in which there is an abnormality in the bone structure, resulting from changes in the collagen type 1 chain: thus, increasing the risk of fractures in children and adults with it. The objective is to report two brothers with osteogenesis imperfecta type V, who presented identical images of bone fibrous dysplasia in the distal region of the fibula bone. Both underwent resection of the bone tumor, and dynamic stabilization of the ankle, in an interval of 8 years.

Keywords: Osteogenesis Imperfecta Type 5; Fibrous Dysplasia; Bone Tumor

References

1. Francis H Glorieux. “Osteogenesis imperfecta”. Best Practice and Research Clinical Rheumatology1 (2008): 85-100.
2. Jordan D Perchik., et al. “Radiation exposure in adult and pediatric patients with osteogenesis imperfecta”. Journal of Orthopaedics4 (2019): 320-324.
3. Lu Y., et al. “Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision”. Intractable and Rare Diseases Research 3 (2022): 96-104.
4. Van Dijk FS and Sillence DO. “Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment”. American Journal of Medical Genetics Part A 164A (2019): 1470-1481.
5. Forlino A and Marini J. “Osteogenesis imperfecta”. Lancet 387 (2016): 1657-1671.
6. Kim OH., et al. “Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients”. American Journal of Medical Genetics Part A8 (2016): 1972-1979.
7. Nakamura K., et al. “Familial occurrence of hyperplastic callus in osteogenesis imperfecta”. Archives of Orthopaedic and Trauma Surgery 8 (1997): 500-503.
8. Goudriaan WA., et al. “Incidence and treatment of femur fractures in adults with osteogenesis imperfecta: an analysis of an expert clinic of 216 patients”. European Journal of Trauma and Emergency Surgery 1 (2020): 165-171.
9. Takahashi S., et al. “Osteosarcoma occurring in osteogenesis imperfecta”. Virchows Archiv5 (2004): 454–458.
10. Chen Y., et al. “Atypical femur fracture in a woman with osteogenesis imperfecta and multiple myeloma”. Journal of Musculoskeletal and Neuronal Interactions: JMNI 3 (2018): 375-381.
11. Kutnowski M., et al. “Osteogenesis imperfecta associated with multiple myeloma”. Scandinavian Journal of Haematology 4 (1979): 339-342.
12. Ferreira DG., et al. “Telangiectaticoste osarcoma arising in osteogenesis imperfecta”. Acta Reumatológica Portuguesa 2 (2021): 171-176.
13. Takahashi S., et al. “Osteosarcoma occurring in osteogenesis imperfecta”. Virchows Archiv5 (2004): 454-458.
14. Gagliardi JA., et al. “Osteogenesis imperfecta complicated by osteosarcoma”. Skeletal Radiology4 (1995): 308-310.
15. Maiya S., et al. “Osteosarcoma occurring in osteogenesis imperfecta tarda”. International Orthopaedics2 (2002): 126-128.
16. Reid BS and Hubbard JD. “Osteosarcoma arising in osteogenesis imperfecta”. Pediatric Radiology2 (1979): 110-112.
17. Lasson U., et al. “Osteogenic sarcoma complicating osteogenesis imperfecta tarda”. European Journal of Pediatrics3 (1978): 215-218.
18. Bedi HS., et al. “Osteosarcoma of the scapula arising in osteogenesis imperfecta”. Pathology 1 (1999): 52-54.
19. Calonge WM., et al. “Type I osteogenesis imperfecta and multipleoste ochondromas in the same child”. Journal of Pediatric Orthopaedics B 2 (2009): 106-109.
20. Mandziak DG and Clayer M. “Chondrosarcoma in a patient with osteogenesis imperfecta”. ANZ Journal of Surgery10 (2003): 794-795.
21. Raut VV and Mehta SD. “Cystic variety of osteogenesis imperfecta with un united fractures (a case report)”. Journal of Postgraduate Medicine 2 (1987): 94-96.
22. Gao YS., et al. “Reverse Transfer of the Proximal Vascularized Fibula to Reconstruct the Lateral Malleolus: A Case Report and Literature Review”. The Journal of Foot and Ankle Surgery 2 (2016): 397-400.
23. Long ZY., et al. “Lateral Malleolus Reconstruction After Tumor Resection in Children: A Case Report and Literature Review”. Orthopaedic Surgery4 (2002): 782-786.
24. Cornu O., et al. “Traumatic injuries of the distal tibiofibular syndesmosis”. Orthopaedics and Traumatology: Surgery and Research 1S (2021): 102778.
25. Lamb A., et al. “Distal fibular excision: A review of the literature and presentation of our reconstruction technique case series”. International Journal of Surgery Case Reports 80 (2021): 105611.

Citation

Citation: Celso B Rizzi Junior., et al. “Osteogenesis Imperfect Type 5 and Fibular Tumor in 2 Brothers: A Case Report". Acta Scientific Clinical Case Reports 5.1 (2024): 13-18.

Copyright

Copyright: © 2024 Celso B Rizzi Junior., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.