Oral findings in Williams-Beuren syndrome

Abstract

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS.

Material and methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography.

Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings.

Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.

Figure 1

Oral findings in patient #15. (A) Malocclusion, dental midline deviation, (B) protruding maxillary teeth, mandibular retrognathism, maxillary prognathism, enamel hypoplasia, (C) high-arched palate, incisors with abnormal tooth shape, (D) irregular format of lower dental arch and tooth crowding.

Figure 2

Panoramic radiograph of patient #4 of this study. Agenesis of the permanent maxillary and mandibular second premolars and permanent mandibular lateral incisor was observed.

Figure 3

(A) Lateral view of patient #10 showing mandibular prognathism; (B) permanent dentition, malocclusion, dental midline deviation, (C) excessive mandibular prognathism, maxillary retrognathism, abnormal shape of upper canines, (D) high-arched palate, irregular format of upper dental arch and (D, E) malpositioned teeth.