Analysis of Orofacial Changes in Children and Adolescents With Mucopolysaccharidosis and Osteogenesis Imperfecta

<i>Objective</i>To compare the prevalence of malocclusion and the facial profile of children/adolescents with rare genetic diseases-mucopolysaccharidosis (MPS) and osteogenesis imperfecta (OI) with normotypical children/adolescents.<i>Design</i>Cross-sectional study.<i>Setting</i>Hospital outpatient clinics in 5 Brazilian states (Ceará, Espírito Santo, Minas Gerais, Rio de Janeiro, and São Paulo).<i>Participants:</i>A total of 152 children and adolescents aged between 2 and 19 years, 76 of whom had rare genetic diseases ([MPS (n = 19) / OI (n = 57)] and 76 with no rare genetic disease; and their parents/guardians.<i>Interventions</i>None tested, observational study.<i>Main Outcome Measure(s)</i>Presence of malocclusion and subjective facial profile analysis. Parents/guardians answered a questionnaire on sociodemographic, behavioral issues, and their child's medical/dental history.<i>Results</i>The average age of the children/adolescents was 8.9 years (±4.6). There were no confounding variables for the association between rare diseases and occlusal issues. The group with rare diseases showed a higher prevalence of occlusal alterations when compared to children/adolescents with no rare diseases. Children/adolescents with rare diseases showed a greater tendency to have a dolichofacial, convex facial profile, with increased lower anterior facial height and inadequate facial proportions when compared to individuals without a rare disease.<i>Conclusions</i>Children/adolescents with MPS and OI had a higher prevalence of malocclusion and facial alterations when compared to children/adolescents without rare diseases.