ArticleNeurospine2020
Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.
Article in Neurospine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Digital risk prediction model for transoral surgery in patients with atlantoaxial dislocation and sandwich fusion.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Anterior Transoral Odontoid Reduction With Clivocervical Fusion in Revision Surgery for Craniovertebral Junction Anomalies: A Case Report and Technical Note.Orthopaedic surgery · 2026Article
- Review
- Sagittal changes in the dens significantly slowed after 12 years of age.Brain & spine · 2025Article
- Knockdown of best1 Gene in Zebrafish Caused Abnormal Neuronal and Skeletal Development - A Subtype of Craniovertebral Junction Malformation?Neurospine · 2024Article
- Article
- Risk Factors of Postoperative Cerebrospinal Fluid Leak After Craniovertebral Junction Anomalies Surgery: A Case-Control Study.Neurospine · 2023Article
- Commentary on "Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination".Neurospine · 2020Article
- From Anatomic to Genetic Understanding of Developmental Craniovertebral Junction Abnormalities.Neurospine · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveDevelopmental bony craniovertebral junction (CVJ) anomalies seem to have a genetic basis and also abnormal joint morphology causing atlantoaxial dislocation (AAD) and basilar invagination (BI).
methodsDNA extracted polymerase chain reaction single-stranded conformation polymorphism (SSCP) performed for mutation screening of FBN1 gene (n = 50 cases+ 50 age/sex-matched normal; total: 100). Samples with a deviated pattern of bands in SSCP were sequenced to detect the type of variation. Computed tomography (CT) scans of 100 patients (15-45 years old) compared with an equal number of age/sex-matched controls (21.9 ± 8.2 years). Joint parameters studied: sagittal joint inclination (SI), craniocervical tilt (CCT), coronal joint inclination (CI).
resultsThirty-nine samples (78%) showed sequence variants. Exon 25, 26, 27, and 28 showed variable patterns of DNA bands in SSCP, which on sequencing gives various types of DNA sequence variations in intronic region of the FBN1 gene in 14%, 14%, 6%, and 44% respectively. CT radiology:SI and CCT correlated with both BI and AAD (p < 0.01). The mean SI value in controls: 83.35° ± 8.65°, and in patients with BI and AAD:129° ± 24.05°. Mean CCT in controls: 60.2° ± 9.2°, and in patients with BI and AAD: 86.0° ± 18.1°. Mean CI in controls:110.3° ± 4.23°, and in cases: 125.15° ± 16.4°.
conclusionThe study showed mutations in FBN1 gene (reported in Marfan syndrome). There is also an alteration of joint morphology, correlating with AAD and BI severity. Hence, we propose a double-hit hypothesis: the presence of weak ligaments (due to FB1 gene alterations) and abnormal joint morphology may contribute to AAD and BI.
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