Objective: The aim was to assess craniofacial features through facial anthropometric and lateral cephalometry measurements of individuals with mucopolysaccharidosis (MPS) and compare them with individuals without MPS.
Design: Cross-sectional study.
Patients: A total of 14 individuals with MPS and 28 non-MPS age- and sex-matched were enrolled in this study.
Methods: A clinical facial analysis to evaluate the soft tissues and cephalometric analysis that comprised linear and angular measurements were performed. The calculation of the method error suggested no systematic errors (p > .05). Random errors for linear and angular measurements were low (less than 0.5° and 1.6 mm). Chi-square test and independent t-test were performed.
Results: Most individuals with MPS were dolichofacial, presented altered facial proportions with an increased anterior lower facial height (ALFH) and lip incompetence (all p < .05), when compared with non-MPS individuals. Six angular measurements (1s.Na, 1s.NB, FMA, IMPA, AFI, and Po.Or_Go.Me; all p < .05) were significantly increased among individuals with MPS, and two (1s.1i and Ba.N-Ptm.Gn, all p < .05) were significantly decreased among them. Four linear measurements were significantly increased among individuals with MPS (1s-NA, 1i-NB, S-UL, and S-LL; all p < .05) and five (PogN-Perp, Co-A, Co-Gn, Nfa-Nfp, and overbite; all p < .05) were significantly decreased among them.
Conclusion: In summary, most individuals with MPS were dolichofacial with increased ALFH. Proclined upper and lower incisors, reduced nasopharyngeal space, and reduced overbite was also noted.
Keywords: cephalometry; dental care for disabled; malocclusion; mucopolysaccharidoses; rare diseases.