目的综述1型神经纤维瘤病（neurofibromatosis type 1, NF1）相关的脊柱畸形致病机制研究进展。 方法广泛查阅近年国内外有关NF1相关脊柱畸形致病机制的文献，对其与脊柱畸形的相互联系、相关致病机制及研究进展进行综述。 结果目前对于NF1患者发生脊柱畸形的致病机制尚未明确，可能与神经纤维瘤直接侵蚀与压迫、椎管内硬脊膜扩张、褪黑素导致的脊柱旁肌肉收缩力下降、骨量减少与骨质疏松、性早熟以及中胚层发育不良有关。 结论NF1患者的众多临床表现可能是导致其脊柱畸形发生的诱因，NF1相关脊柱畸形致病机制的研究将有助于对NF1脊柱畸形的认识、诊断和治疗
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