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2 articles for “Osteogenesis imperfecta”
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A Narrative Review on Osteogenesis Imperfecta and Its Management
Abstract: Osteogenesis imperfecta (OI), sometimes referred to as brittle bone disease, is a heterogeneous illness characterized by short stature, several fractures, and distorted bones. The main contributing factor to OI is mutations in the genes needed to produce type 1 collagen. While severe OI is perinatally fatal, mild OI can occasionally not be detected until maturity. The frequency of Osteogenesis imperfecta ranges from about 1:15,000 to 1:20,000 births. Five kinds of …
Published in International Journal of Orthopedic Nursing and Practices · Vol. 2, Issue 1, 2024 · pp. 1–10 Read article
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Stretching Boundaries: A Comprehensive Review of Ehlers-Danlos Syndrome and its Subtypes
Abstract: The Ehlers-Danlos syndromes (EDS) encompass 13 inheritable disorders affecting connective tissue. These conditions arise from genetic alterations impacting the structure of connective tissue. Every variant of Ehlers-Danlos syndrome (EDS) exhibits distinct features and has specific diagnostic criteria. While certain traits such as joint hypermobility, skin hyperextensibility, and tissue fragility are common across all types of EDS. The range of clinical presentations spans from minor skin and joint looseness to severe …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 1, 2024 · pp. 44–57 Read article