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1型神经纤维瘤病患者胫骨先天性假关节与半侧肥大并存

Coincidence of Congenital Pseudarthrosis of the Tibia and Hemihypertrophy in a Patient With Neurofibromatosis Type 1.

作者信息

Alshayhan Fahad A, Hamdy Reggie C

机构信息

From the Department of Orthopedics, College of Medicine, King Saud University, Riyadh, Saudi Arabia (Dr. Alshayhan), and the Shriners Hospital for Children, Montreal, Quebec, Canada (Dr. Hamdy).

出版信息

J Am Acad Orthop Surg Glob Res Rev. 2025 Jul 2;9(7). doi: 10.5435/JAAOSGlobal-D-25-00030. eCollection 2025 Jul 1.

Abstract

Neurofibromatosis type 1 (NF-1) leads to cutaneous, neurological, and musculoskeletal manifestations. Congenital pseudarthrosis of the tibia treatment is considered aggressive in achieving bone union. Most of those patients get a short limb at the end of treatment because of pathological bone resection and malalignment. One of the manifestations that can appear in patients is localized hemihypertrophy of the limb. In our case, we present the first time a coexistence of congenital pseudarthrosis of the tibia and hemihypertrophy in the same leg was reported.

摘要

1型神经纤维瘤病(NF-1)会导致皮肤、神经和肌肉骨骼方面的表现。胫骨先天性假关节的治疗在实现骨愈合方面被认为是积极的。由于病理性骨切除和对线不良,这些患者中的大多数在治疗结束时会出现肢体短小。患者可能出现的一种表现是肢体局限性半侧肥大。在我们的病例中,首次报道了同一条腿上胫骨先天性假关节和半侧肥大并存的情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd24/12189972/8aab0a2bc9fc/jagrr-9-e25.00030-g001.jpg

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