Case Reports
Osteogenesis Imperfecta Type III: Case Report and Comprehensive Analysis of Phenotypic Classification, Genetic Causes, and Therapeutic Approaches
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Natã Graça
Roberto Fakhouri
Maria Luiza Alessi Ribeiro
Samira El Maerrawi Tebecherane Haddad
Alessandra Alessi Ribeiro
Abstract
Osteogenesis imperfecta (OI), known as brittle bone disease, is a genetic condition that affects the extracellular matrix of the skeletal system, causing bone fragility and potential impacts on other organs. Its prevalence varies from approximately 1 in 10 000 to 20 000 births and is associated with various genetic mutations. We report a case of a 14-month-old female patient diagnosed with OI type III, characterized by short stature, dental abnormalities, and bone fragility. Medical history includes effectively treating fevers, gastrointestinal, and respiratory issues. X-rays revealed fractures in bilateral femurs and humeri. She underwent femur surgery and continues to experience frequent fractures, unable to ambulate, under intensive medical care. OI is a genetic condition presenting with severe bone fragility, short stature, and progressive deformities, necessitating accurate diagnosis and effective treatment to improve quality of life.
Article Details
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References
Palomo T, Vilaça T, Lazaretti-Castro M. Osteogenesis imperfecta: diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes. 2017;24:381-8. doi: 10.1097/MED.0000000000000367.
Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A:1470-81. doi: 10.1002/ajmg.a.36545. Erratum in: Am J Med Genet A. 2015;167A:1178. P
Martin E, Shapiro JR. Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5:91-7. doi: 10.1007/s11914-007-0023-z.
Martins G, Siedlikowski M, Coelho AKS, Rauch F, Tsimicalis A. Bladder and bowel symptoms experienced by children with osteogenesis imperfecta. J Pediatr. 2020;96:472-8. doi: 10.1016/j.jped.2018.12.008.
Khan SI, Yonko EA, Carter EM, Dyer D, Sandhaus RA, Raggio CL. Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis. Clin Orthop Relat Res. 2020;478:2833-43. doi: 10.1097/CORR.0000000000001400..
Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, et al. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Mol Genet Metab. 2015;116:215-20. doi: 10.1016/j.ymgme.2015.09.010.
Abulsaad M, Abdelrahman A. Modified Sofield-Millar operation: less invasive surgery of lower limbs in osteogenesis imperfecta. Int Orthop. 200;33:527-32. doi: 10.1007/s00264-008-0515-1.