Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.

ABSTRACT:

Objective

Developmental bony craniovertebral junction (CVJ) anomalies seem to have a genetic basis and also abnormal joint morphology causing atlantoaxial dislocation (AAD) and basilar invagination (BI).

Methods

DNA 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).

Results

Thirty-nin

SUBMITTER: Chauhan AK 

PROVIDER: S-EPMC7788422 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature