Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Emily Ellison, Steven J Grampp, Seth Ellison, Andrea Seeley, Mark Seeley
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Abstract

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant genetic malformation disorder which is best characterized by both its craniofacial and skeletal abnormalities. The purpose of this paper is to identify the various orthopedic manifestations and management in patients with TRPS. A systematic search of PubMed, Ovid MEDLINE, and Cochrane Library was conducted. They were each individually searched for primary articles yielding information on the orthopedic manifestations and management of patients with TRPS. The goals and results of each of the included studies were described. Data regarding the demographics, orthopedic condition, treatment strategy, and outcomes were extracted and analyzed. 221 unique articles were retrieved, with 13 articles being included in the study. 26 patients with TRPS were identified. Trials of conservative management were reported for 14 patients, and surgical intervention was pursued for 8 patients. The mean age for surgery was 14.1 years. The most common orthopedic manifestations of TRPS are clinodactyly, Perthes-like changes, and coxa magna. Early identification and maintenance of TRPS is important for being able to monitor musculoskeletal health of the patients in order to prevent detrimental outcomes. Additional high-quality research is required regarding the orthopedic manifestations and treatment of this patient population.

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毛细血管扩张综合征(Trichorhinophalangeal Syndrome)骨科表现与治疗:系统综述。
毛细血管畸形综合征(TRPS)是一种常染色体显性遗传畸形疾病,其最大特点是颅面和骨骼均异常。本文旨在确定 TRPS 患者的各种矫形表现和治疗方法。本文对 PubMed、Ovid MEDLINE 和 Cochrane 图书馆进行了系统检索。它们分别检索了有关 TRPS 患者骨科表现和治疗方法的主要文章。对每项纳入研究的目标和结果进行了描述。提取并分析了有关人口统计学、骨科状况、治疗策略和结果的数据。共检索到 221 篇文章,其中 13 篇被纳入研究。确定了 26 名 TRPS 患者。14名患者接受了保守治疗,8名患者接受了手术治疗。手术的平均年龄为 14.1 岁。TRPS最常见的骨科表现是clinodactyly、珀尔帖样改变和尾骨。早期识别和维护 TRPS 对于监测患者的肌肉骨骼健康以防止不良后果的发生非常重要。需要对这一患者群体的骨科表现和治疗进行更多高质量的研究。
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来源期刊
CiteScore
2.60
自引率
6.70%
发文量
282
审稿时长
8 weeks
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