Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.

Abstract

Objective: Mucopolysaccharidoses (MPS) represent a heterogeneous group of rare, inherited lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in various tissues, including the orofacial region. This study aims to investigate the orofacial features and radiographic manifestations in a cohort of pediatric patients diagnosed with MPS.

Materials and methods: Thirty-five patients (18 males, 17 females) diagnosed with different subtypes of MPS underwent comprehensive oral and radiographic examinations. The presence and frequency of clinical and radiographic findings were documented. Radiographic analysis was feasible in 26 patients, with 9 excluded due to severe intellectual disability. The decayed, missing, and filled teeth (DMFT/dft); decayed, missing, and filled surfaces (DMFS/dfs) indices were recorded according to WHO criteria. The dental plaque scores were determined according to Silness & Löe plaque index. Data was analysed using SPSS 25.0, with descriptive statistics summarizing variables and Fisher's Exact test applied for subgroup comparisons by MPS subtype; significance was set at p < 0.05.

Results: The most frequent orofacial findings included tongue thrusting (80%, n = 28/35), limited mouth opening (71%, n = 25/35), macroglossia (71%, n = 25/35), and anterior open bite (54%, n = 19/35). Radiographic analysis revealed a thin mandibular cortex in 38% (n = 10/26) of cases, impacted teeth in 27% (n = 7/26), and a short mandibular ramus in 23% (n = 6/26). This is the first reported case of a talon cusp, a rare dental anomaly occurring in a patient with MPS-IV, highlighting a previously unrecognized association in the literature. The distribution of MPS types was: MPS-I (n = 3), MPS-II (n = 6), MPS-III (n = 8), MPS-IV (n = 10), MPS-VI (n = 7), and MPS-VII (n = 1).

Conclusions: Orofacial manifestations are frequently observed in patients with MPS and may serve as early indicators of the disorder, particularly within dental settings. Recognition of these features is essential, as they underscore the need for multidisciplinary care and routine dental evaluations to mitigate potential complications and enhance overall quality of life.

Clinical relevance: Orofacial abnormalities are common in children with MPS and may provide early clues to the diagnosis. This study emphasizes the importance of dental evaluations in identifying these signs, including the first reported case of a talon cusp in a patient with MPS. Early recognition by dental professionals can support timely diagnosis, guide appropriate referrals, and improve patient outcomes through coordinated, multidisciplinary care.