Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.

IF 3.3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM
Calcified Tissue International Pub Date : 2024-12-01 Epub Date: 2024-08-21 DOI:10.1007/s00223-024-01276-3
Juliana Marulanda, Jean-Marc Retrouvey, Frank Rauch
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引用次数: 0

Abstract

Although fractures are the defining characteristic of osteogenesis imperfecta (OI), the disorder affects many tissues. Here we discuss three facets of the OI phenotype, skeletal growth and development, skeletal muscle weakness and the dental and craniofacial characteristics. Short stature is almost universal in the more severe forms of OI and is probably caused by a combination of direct effects of the underlying genetic defect on growth plates and indirect effects of fractures, bone deformities and scoliosis. Recent studies have developed OI type-specific growth curves, which allow determining whether a given child with OI grows as expected for OI type. Impaired muscle function is an important OI-related phenotype in severe OI. Muscles may be directly affected in OI by collagen type I abnormalities in muscle connective tissue and in the muscle-tendon unit. Indirect effects like bone deformities and lack of physical activity may also contribute to low muscle mass and function. Dental and craniofacial abnormalities are also very common in severe OI and include abnormal tooth structure (dentinogenesis imperfecta), malocclusion, and deformities in the bones of the face and the skull. It is hoped that future treatment approaches will address these OI-related phenotypes.

Abstract Image

成骨不全症儿童的骨骼和非骨骼表型。
虽然骨折是成骨不全症(OI)的主要特征,但这种疾病会影响许多组织。在此,我们将讨论 OI 表型的三个方面,即骨骼生长和发育、骨骼肌肉无力以及牙齿和颅面特征。身材矮小在较严重的 OI 中几乎是普遍现象,其原因可能是潜在遗传缺陷对生长板的直接影响以及骨折、骨骼畸形和脊柱侧弯的间接影响。最近的研究已经绘制出针对 OI 类型的生长曲线,从而可以确定某个 OI 患儿的生长是否符合 OI 类型的预期。肌肉功能受损是严重 OI 患者的一个重要 OI 相关表型。肌肉结缔组织和肌肉肌腱单元中的 I 型胶原蛋白异常可能会直接影响 OI 患者的肌肉。骨骼畸形和缺乏运动等间接影响也可能导致肌肉质量和功能低下。牙齿和颅面异常在严重的 OI 中也很常见,包括牙齿结构异常(牙本质发育不全)、咬合不正以及面部和颅骨畸形。希望未来的治疗方法能够解决这些与 OI 相关的表型问题。
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来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
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