Characteristics of the craniofacial complex in Turner syndrome

Objective

To identify characteristics of the craniofacial complex in Turner syndrome (TS) patients from Croatian population, to investigate the interrelationship among craniofacial variables and to assess their correlation with age.

Design

Cephalometric analysis was carried out on lateral cephalograms of 36 TS patients, aged 10-33 years. Cephalograms of 72 age-matched healthy females with class I occlusion served as control.

Results

Logistic regression analysis sorted out two variables as predictors of TS: shorter posterior cranial base length (sella-basion) and reduced mandibular prognathism angle (sella-nasion-supramentale). Sixty-four percent of TS patients and 92% of the controls were classified correctly. After exclusion of the variable sella-nasion-supramentale, three variables were significant predictors of TS: shorter sella-basion, larger cranial base angle (nasion-sella-basion) and shorter subspinale-basion distance. Retrognathic position of the jaws in TS subjects was not correlated with the shape of the cranial base. Correlations with age revealed lack of maxillary longitudinal growth with persistent retrognathism and posterior rotation along with reduced mandibular growth.

Conclusion

Shorter posterior length and increased cranial base angle along with bimaxillary retrognathism were characteristics of TS patients. Results indicated that deficiency of the X chromosome genes had a direct influence on all three anatomic parts - cranial base, maxilla and mandible - causing irregular growth.