Congenital Absence of Posterior Elements of Axis: Case Series, Literature Review, and Classification Proposal

The purpose of this study is to present 5 new cases of congenital absence of posterior elements of the axis (C2), totaling 17 cases reported in the literature, and to propose an anatomical classification system for this rare condition for standardizing its management.

A retrospective review of 5 patients diagnosed and surgically treated for the absence of C2 posterior elements was conducted from 2017 to 2024. Clinical characteristics were summarized, and imaging studies, including X-rays, computed tomography, and magnetic resonance imaging, were performed to define abnormalities and cord compression. Surgical approaches were selected based on anatomical features and the new classification. The rare disease was classified into type I (C2/3 single level) and type II (C1/2 and C2/3 2 levels) based on the level of dislocation or instability.

All patients presented with C2/C3 instability or dislocation and underwent surgery. The classification system further categorized cases into type Ia, Ib, and Ic, based on the abnormalities of C0-C1 and C1-C2 in type I, and applied to 17 cases in total. Postoperatively, neurological status improved in all patients.

This study proposes a classification system for congenital absence of posterior C2 elements and demonstrates its utility in guiding surgical treatment.