Abstract

Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Virtually every organ and system can be affected in WBS as a result of haploinsufficiency. Most cases are sporadic, although familial cases with autosomal dominant inheritance have been reported. Oral abnormalities are also described in clinical manifestations of the disease. This study describes orofacial features in 17 patients with WBS. Patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common oral findings. The present study contributes to the knowledge of orofacial manifestations in WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help to improve their quality of life.

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