Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion

Figure 1

One 62-year-old woman (patient ID 22KAH0010) with quadriplegia carried multiple nonsynonymous mutations in MEOX1 and KMT5A. (a–d) the radiological imaging showed sandwich fusion that is occiput-atlas fusion combined with axis-C3 vertebra fusion. The areas pointed out by the red arrows in b are the fusion sites. (e, f) MRI showed AAD compressing the spinal cord as well as a huge syringomyelia where the red pentastars indicate. (g) Preoperative lateral X-ray films showed sandwich fusion, AAD, and swan neck deformity. (h) Postoperative lateral X-ray films showed atlantoaxial joint was in anatomical reduction.

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