髓内钉治疗骨质疏松畸形及疼痛1例。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Laura Ruzzini , Michaela V. Gonfiantini , Emanuela Asunis , Grazia M. Ubertini , Andrea Bartuli , Pierfrancesco Costici
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引用次数: 0

摘要

骨质疏松症是一种罕见的硬化性骨发育不良,其特征是受影响的骨骼增厚和不规则骨化。这种疾病可以影响骨骼系统中的任何骨骼,下肢的长骨更容易受到影响。症状包括疼痛、水肿、关节僵硬、肌肉萎缩和骨畸形。这种疾病的管理具有挑战性且不标准化。它取决于症状,从物理治疗到药物治疗或手术来纠正肢体畸形,肌肉和肌腱挛缩和关节僵硬。本病例报告介绍了使用股骨逆行髓内钉治疗因骨质疏松症引起的下肢畸形的临床管理和治疗。该手术为受影响的骨骼提供了稳定性,从而矫正了畸形,减轻了下肢疼痛,提高了她的生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Management of a case of melorheostosis deformity and pain with intramedullary nailing
Melorheostosis is a rare sclerosing bone dysplasia characterized by the thickening and irregular ossification of the affected bones. This disease can affect any bone in the skeletal system, with the long bones of the lower extremities being more frequently involved. Symptoms include pain, oedema, joint stiffness, muscle atrophy and bone deformity.
Management of this disease is challenging and not standardized. It depends on the symptoms, and it varies from physical therapy to pharmacological approach or surgery to correct limb deformities, muscle and tendon contractures and joint stiffness.
This case report presents the clinical management and treatment of a patient with lower limb deformities due to melorheostosis using retrograde intramedullary nailing of the femurs.
The procedure provided stability to the affected bones, resulting in correction of deformities and alleviation of lower limb pain, improving her quality of life.
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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