Osteogenesis Imperfecta: Case Report and Literature Review

Authors

I Gede Bramantya Surya Mahendra , Dyah Purnaning

DOI:

10.29303/jppipa.v10i11.9342

Published:

2024-11-25

Issue:

Vol. 10 No. 11 (2024): November

Keywords:

Case report, Congenital, Osteogenesis imperfecta, Pediatric

Research Articles

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Mahendra, I. G. B. S., & Purnaning, D. (2024). Osteogenesis Imperfecta: Case Report and Literature Review. Jurnal Penelitian Pendidikan IPA, 10(11), 9106–9113. https://doi.org/10.29303/jppipa.v10i11.9342
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Abstract

Osteogenesis imperfecta or brittle bone disease is a disorder of congenital bone fragility caused by genetic mutations in the procollagen type 1 code (COL1A1 and COL1A2). The global prevalence of children born with osteogenesis imperfecta is estimated to be 1 in 100,000 children worldwide. The diagnosis of osteogenesis imperfecta is based on history taking, physical examination, and supporting examination. Management of patients with osteogenesis imperfecta requires multidisciplinary treatment. There are several treatments that can be done, including conservative management, surgical management, and medical rehabilitation. This case report will discuss an 8-year-old girl who was treated at the West Nusa Tenggara Provincial Hospital with a diagnosis of closed fracture of the sinistra femur, osteogenesis imperfecta, and Congenital Talipes Equinovarus (CTEV).

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Author Biographies

I Gede Bramantya Surya Mahendra, Regional General Hospital of West Nusa Tenggara Province

Dyah Purnaning, Regional General Hospital of West Nusa Tenggara Province

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