From the Geisinger Commonwealth School of Medicine, Scranton, PA (Ms. E. Ellison, Mr. Grampp, Mr. S. Ellison); the Department of Pediatric Genetics, Geisinger Medical Center, Danville, PA (Dr. A. Seeley); and the Department of Orthopaedic Surgery, Geisinger Medical Center, Danville, PA (Dr. M. Seeley).
J Am Acad Orthop Surg Glob Res Rev. 2024 Aug 19;8(8). doi: 10.5435/JAAOSGlobal-D-24-00010. eCollection 2024 Aug 1.
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.
三联征综合征（TRPS）是一种常染色体显性遗传的畸形疾病，其颅面和骨骼异常是其主要特征。本文旨在确定 TRPS 患者的各种矫形表现和治疗方法。对 PubMed、Ovid MEDLINE 和 Cochrane Library 进行了系统检索。分别对每个数据库进行了检索，以获取有关 TRPS 患者矫形表现和治疗的原始文章信息。描述了每个纳入研究的目的和结果。提取并分析了有关人口统计学、矫形情况、治疗策略和结果的数据。共检索到 221 篇独特的文章，其中 13 篇被纳入研究。共确定了 26 例 TRPS 患者。有 14 例患者接受了保守治疗的试验，8 例患者接受了手术干预。手术的平均年龄为 14.1 岁。TRPS 最常见的矫形表现是指（趾）弯曲、类佩特氏病改变和髋骨增大。早期识别和维持 TRPS 对于监测患者的肌肉骨骼健康以防止不良后果非常重要。需要更多关于该患者群体的矫形表现和治疗的高质量研究。
