Intraoral features of Apert's syndrome

To evaluate the intraoral features of patients with Apert's syndrome in treatment at the Hospital of Rehabilitation and Craniofacial Anomalies of University of São Paulo (HRAC-USP), a national reference center for treatment of craniofacial anomalies in Brazil.

In this retrospective study, of 56,000 patients registered at HRAC-USP, 36 patients were diagnosed with Apert's syndrome and were either examined or had their medical files evaluated, aiming to characterize lip posture, mouth shape, maxillary hypoplasia, palatal morphology, dental anomalies, and malocclusion.

Most patients were characterized as mouth breathers for presenting with hypotonic lips and trapezoidal-shaped mouths. Other frequent findings were the presence of highly arched palates and hypoplastic maxilla, with gingival lateral swellings that increased in size with age. Crowding of teeth and malocclusion were commonly observed, and cases of hypodontia were frequent. Contrary to previous studies demonstrating a high incidence of cleft soft palate, in this study only 1 of 23 patients presented a true cleft.

The intraoral features of patients with Apert's syndrome in the population studied match most of the findings in other populations. However, the occurrence of cleft soft palate was unexpectedly low and morphologically normal teeth were found. In addition, hypodontia was frequently observed. Variations in frequency of observations of some characteristics might be related to differences in sample size or population.