Facial and Cephalometric Features of Individuals With Mucopolysaccharidosis: A Cross-Sectional Study

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 degrees 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.