Determination of craniofacial and dental characteristics of individuals with Williams‐Beuren syndrome by using 3D facial scans and radiographs

Abstract

Williams-Beuren syndrome (WBS) is a rare, untreatable genetic disease caused by a submicroscopic hemizygous deletion in chromosome 7, which is estimated to affect 1/7500-10 000 newborns. 1 A region of 26-28 genes is involved, including the Elastin gene. This genetic abnormality is linked to cardiovascular, neurocognitive and endocrine disorders, as well as to orbital, musculoskeletal, gastrointestinal and urogenital affectations. 1 50% of individuals with WBS present hypertension, 1 supravalvular aortic stenosis and segmental narrowing of arteries. They have an increased risk of diabetes mellitus and impaired glucose tolerance. 31.5% of WBS patients are reported to have subclinical hypothyroidism 5 and 5%-50% of WBS children present hypercalcaemia. 1 A different proportion of the grey and white matter has been suggested to be the reason for their specific behavioural and cognitive profile. 2 Individuals with

Oral manifestations of nine individuals with Williams syndrome. A case series

“…Similar results have also been noted by Danneels and co‐workers, who mentioned a significant difference in condyle symmetry in 63.66% of WS subjects 26 . Moreover, large gonion angles and the open growth pattern are in accordance with previous reports 25,26 . The presence of malocclusion, such as deep‐bite, open‐bite and cross‐bite, which was a common finding affecting the majority of subjects, is consistent with other studies 20,22,29 .…”

“…With regards to the radiographic findings, we found asymmetric condyles (different shape of the one condyle or thinner condyles) in three individuals. Similar results have also been noted by Danneels and co‐workers, who mentioned a significant difference in condyle symmetry in 63.66% of WS subjects 26 . Moreover, large gonion angles and the open growth pattern are in accordance with previous reports 25,26 .…”

“…In general, many of our dental findings are similar to those of previous studies, such as the abnormal tooth morphology and the congenitally missing teeth. Specifically, we noted congenitally missing permanent teeth in 66.7% of patients, which is a common finding in this group of individuals 20–22,25,26 . Premolars and lateral incisors were missing more frequently and this is also observed in the aforementioned studies.…”

“…From the 10 studies available on PubMed, only two examined a substantial number of individuals, 20,21 while the others include small case series or case reports. [22][23][24][25][26][27][28][29] In the study of Hertzberg et al, 20 67.7% of WS patients exhibited tongue thrusting, a finding which was also mentioned by Joseph et al 22 Regarding dental eruption timing and sequence, Joseph and co-workers 22 observed eruption delays of approximately 1 to 2 years. However, Hertzberg et al observed that the eruption timing and sequence were within normal limits.…”

“…Relatively limited is the existing evidence regarding the oral manifestations and dental findings of WS. From the 10 studies available on PubMed, only two examined a substantial number of individuals, 20,21 while the others include small case series or case reports 22–29 . In the study of Hertzberg et al., 20 67.7% of WS patients exhibited tongue thrusting, a finding which was also mentioned by Joseph et al 22 .…”