Abstract
Williams Syndrome: Oral Findings and Orthodontic Management of a Rare Disease
Highlights
IntroductionThe rare genetic disorder known as Williams syndrome (WS), called Williams-Beuren syndrome (WBS; OMIM #194050) or Infantile Hypercalcaemia, has been described for the first time in 1952 [1] as “idiopathic infantile hypercalcaemia with failure to thrive”, but it owes its name to Drs J.C
The rare genetic disorder called Williams syndrome is due to microdeletion of long arm of chromosome 7 with defect of 20 genes including the one encodes for elastine
The rare genetic disorder known as Williams syndrome (WS), called Williams-Beuren syndrome (WBS; OMIM #194050) or Infantile Hypercalcaemia, has been described for the first time in 1952 [1] as “idiopathic infantile hypercalcaemia with failure to thrive”, but it owes its name to Drs J.C
Summary
The rare genetic disorder known as Williams syndrome (WS), called Williams-Beuren syndrome (WBS; OMIM #194050) or Infantile Hypercalcaemia, has been described for the first time in 1952 [1] as “idiopathic infantile hypercalcaemia with failure to thrive”, but it owes its name to Drs J.C. The patient presented heart problems and high blood pressure farmacologically compensated with a combination of candesartan/ hydroclorotiazide His congenital heart valvular defect required a first cardiosurgery operation at 7 years old. The face shows the others typical features of the syndrome: the flattened nasal septum and globian nose tip, the anteverse nostrils, the wide mouth with full lips and anteverse lower lip, the prominent cheeks, the periorbital edema, the epicanto and the star iris (Figure 1). During the phases of multibrackets therapy, the patient did not want to undergo https://scidoc.org/IJDOS.php the detection of new photographic records which for him were a cause of great anxiety and concern despite the repeated explanations on how they were performed and the importance of doing so. The other parameters slightly changed and some of them probably were modified for the growth and not for the therapy (Figure 8, Table 1)
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