Craniofacial Radiographic Features in Amelogenesis Imperfecta: A Case-Control Study

Objectives This study aimed to assess the craniofacial characteristics of individuals with amelogenesis imperfecta (AI) through cephalometric data analysis. Methods The sample comprised 19 patients (11 female, 8 male), with a mean age of 14.00 ± 4.61 years, diagnosed with AI, and 40 age- and sex-matched healthy controls with normal occlusion and balanced profiles. Twenty-three cephalometric variables were used for quantitative assessment. Differences were compared between groups using Student's t-test (p < 0.05). Results Open-bite malocclusion was observed in 57.9% of individuals with AI. The vertical skeletal relationship showed increased anterior facial height, mandibular plane angle, and gonial angles compared to controls (p < 0.01). The skeletal sagittal relationship exhibited a Class II pattern with a retruded mandibular position (p < 0.01), while the maxillary and mandibular lengths showed no significant differences. Additionally, analysis across the four main AI subtypes revealed no significant differences in craniofacial morphology (p > 0.05). Conclusions Excessive vertical growth appears to be the primary cause of the high prevalence of anterior open bite (AOB) in AI patients. These findings suggest that AI-related enamel defects may indirectly influence skeletal growth patterns, warranting early orthodontic monitoring and specialized care.