Mandibular trabecular microarchitecture as a radiographic biomarker of bone health in children with 22q11.2 deletion syndrome

DiGeorge Syndrome (DGS), or 22q11.2 deletion syndrome, is a multisystem genetic disorder characterized by distinct craniofacial features and profound endocrine alterations, particularly parathyroid dysfunction and chronic hypocalcemia. This study aimed to non-invasively evaluate the microarchitecture of mandibular trabecular bone in pediatric patients with DGS using fractal dimension (FD) analysis on panoramic radiographs, aiming to better understand the localized radiographic impact of systemic calcium dysregulation and its implications for clinical management.

Eleven pediatric patients diagnosed with DGS and eleven healthy, age- and sex-matched controls were enrolled. FD values were calculated using the box-counting method via ImageJ software across specific mandibular regions, including the condylar, gonial, and interdental areas. To assess measurement reliability and potential bias, a within-subject comparison of the right and left region of interests (ROIs) was conducted using the Wilcoxon signed-rank test. Regional influences of age and gender were evaluated using Spearman’s correlation and Mann-Whitney U tests.

A statistically significant reduction in trabecular complexity was identified in the right condylar region of the DGS group (p = 0.005). No significant differences were observed between the right and left corresponding ROIs (p > 0.05), indicating an absence of measurement bias. While gender did not influence FD values, a localized moderate negative correlation was found between age and FD specifically in the left gonial region (r =-0.427, p = 0.047).

The reduction in localized mandibular trabecular complexity in children with DGS serves as a localized radiographic biomarker of the syndrome’s underlying endocrine and calcium signaling disruptions. Safely managing the complex dentofacial needs of this vulnerable population requires a paradigm shift from isolated dental care to a closely coordinated, interdisciplinary approach involving pediatric endocrinologists, pediatricians, and pediatric dentists.