Maxine Dunitz Neurosurgical Institute, Cedars-Sinai Medical Center, 127 S. San Vicente Boulevard, 6th Floor #A6600, Los Angeles, CA 90048, USA. Electronic address: https://twitter.com/AlonKashanian.
Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, 600 Highland Avenue, Madison, WI 53792, USA. Electronic address: https://twitter.com/stadler_md.
Neurosurg Clin N Am. 2022 Jan;33(1):17-23. doi: 10.1016/j.nec.2021.09.003. Epub 2021 Oct 26.
Achondroplasia is the most common of skeletal dysplasias and is caused by a defect in endochondral bone formation. In addition to skeletal deformities, patients with achondroplasia possess significant abnormalities of the axial skeleton, including small skull base with a narrowed foramen magnum and small vertebral bodies with shortened pedicles. Consequently, patients with achondroplasia are at risk of several severe neurologic conditions, such as cervicomedullary compression, spinal stenosis, and hydrocephalus, which frequently require the attention of a neurosurgeon. This article provides an updated review on the neurosurgical evaluation and care of children with Achondroplasia.
软骨发育不全症是最常见的骨骼发育不良症，由软骨内骨形成缺陷引起。除了骨骼畸形外，软骨发育不全症患者的轴骨骼还存在明显异常，包括颅底小、枕骨大孔狭窄和椎体小、椎弓根短。因此，软骨发育不全症患者存在多种严重神经疾病的风险，如颈髓压迫、椎管狭窄和脑积水，这些疾病经常需要神经外科医生的关注。本文就软骨发育不全症患儿的神经外科评估和治疗进行了综述更新。
