Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies

Abstract

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and a propensity for multiple fractures, often leading to various skeletal deformities. Spinal involvement, particularly the development of scoliosis, is one of the most serious clinical manifestations of OI, significantly impacting patients' quality of life. Scoliosis in OI is characterized by early onset and rapid progression, complicating its treatment and necessitating special attention. This review article consolidates the results of contemporary molecular-genetic studies on spinal deformities in children with OI and examines the risk factors for their progression. It provides an overview of existing methods for treating scoliotic deformities in OI, including surgical and conservative approaches, and discusses prospects for the implementation of new therapeutic strategies. The aim of the review is to enhance the understanding of the pathogenesis of spinal deformities in OI and to contribute to the development of more effective methods for their diagnosis and treatment.

Keywords

genes / kyphosis / osteogenesis imperfecta / scoliosis / spine / vertebral deformity

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