Yang Xiangyu,Zhu Guanghui.Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases[J].Journal of Clinical Pediatric Surgery,2025,(04):307-311.[doi:10.3760/cma.j.cn101785-202502047-002]
Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases
- Keywords:
- Neurofibromatosis Type 1; Bone Diseases; Osteoporosis; Scoliosis; Pseudarthrosis; Tibia; Diagnosis; Therapy
- Abstract:
- neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene.Typical clinical manifestations include café-au-lait macules,neurofibromas,and NF1-related skeletal lesions.In recent years,increasing attention has been paid to orthopedic conditions associated with NF1,such as scoliosis,congenital pseudarthrosis of the tibia,and osteoporosis.Multidisciplinary diagnosis,treatment,and disease management have become key research areas.This review aims to describe advancements in the diagnosis and treatment of NF1 and its related orthopedic diseases,improve clinical awareness of comprehensive,multidisciplinary management of and enhance patients’ quality of life.
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Memo
收稿日期:2025-2-24。
基金项目:国家重点研发计划(2023YFC2507605);儿童骨科学湖南省重点实验室专项(2023TP1019)
通讯作者:朱光辉,Email:zgh5650@163.com