Neurosurgical Evaluation and Management of Children with Achondroplasia

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.