Evaluation of oral findings and treatment approach of a child patient with Williams Syndrome: Case report

Sažetak

Williams syndrome (WS), also known as Williams-Beuren syndrome, is an autosomal dominant disorder. Although the exact incidence is unknown, it is estimated to occur in approximately 1 in 20,000 live births. The syndrome has been identified in all ethnic groups worldwide and affects both sexes equally. Individuals diagnosed with WS have a de novo deletion of 1.5 to 1.8 Mb at 7q11.23, and although rare, an affected parent of a person with WS may also carry this deletion. This syndrome is a multisystem disorder that affects both mental and physical development. The deleted region of chromosome 7q11.23 observed in WS includes the ELN gene, which encodes the elastin protein, a critical component of elastic fibers found in the connective tissue of many organs. WS is characterized by distinctive facial features (elfin-like face), cardiovascular anomalies, primarily supravalvular aortic stenosis (SV AS), growth delay, early puberty, endocrine disorders such as hypothyroidism, intellectual disability with a typical neurobehavioral profile, and often infantile hypercalcemia. Additionally, facial features include a broad forehead, bitemporal narrowing, periorbital fullness, a stellate/lacy iris pattern, strabismus, a short nose with a broad nasal tip, malar flattening, a long philtrum, thick vermilion line of the upper and lower lips, and a wide mouth. The identified intraoral findings of the syndrome include generalized diastemas (70%), a high-arched palate, hypodontia (50%), microdontia, and enamel hypoplasia. Additionally, these patients may present with malocclusion conditions such as small roots, dens invaginatus, anterior crossbite, anterior deep bite, or open bite. Dental malocclusion is present in 85% of individuals with WS and responds to orthodontic treatment. Poor fine motor skills pose challenges in maintaining oral hygiene and increase the risk of dental caries. The aim of this case presentation is to describe the facial, oral, and dental features observed in a pediatric patient with Williams Syndrome and to detail the therapeutic approaches employed.