A clinical study of orofacial features in 26 Brazilian patients with different types of mucopolysaccharidoses
Glycosaminoglycans; Mucopolysaccharidosis; orofacial abnormalities
Purpose: This study purpose to describe orofacial features of 26 unrelated Brazilian patients with mucopolysaccharidosis (MPS), and verify any possible associations between these findings and specific MPS-types. Methods: Patients were diagnosed with MPS, and systemically evaluated. Following consent, a clinical assessment form was completed. Facial and intraoral examination was performed, evaluating facial pattern, malocclusions, dental caries, tooth identification. Results: Midface deficiency, increased lower facial third, anterior open bite, convex profile, macroglossia, gingival enlargement and spaced arches were the most frequently observed features. These findings did not allow a differential diagnosis between different types of MPS, except for pitting enamel, which significantly associated with MPS IVA (p=.000). Open bite was statistically related to MPS types I, II, III and VI, whereas only 1 patient with MPSIVA expressed this feature (p=.043). Conclusions: Our results suggest that pitted enamel in MPS patients is most likely a feature of MPS type IVA, whereas open bite is rarely observed in these patients. Orofacial features in MPS may help pediatric dentists recognize this disorder and minimize the delay between the initial signs/symptoms and diagnosis of the disease. Future studies should focus in the longitudinal manifestations, expression and severity of MPS-associated orofacial anomalies.