Williams syndrome (WS) takes its name from Williams\u2019s 1961 description of four clinical cases in which supravalvular aortic stenosis, intellectual disability and distinctive facial features were associated (1), with an incidence of 1 in 20,000 (2\u20134).<\/p>\n
Most cases are sporadic, although there are some familial cases with an autosomal dominant pattern of inheritance (5).<\/p>\n
Recent studies in molecular cytogenetics have confirmed that this condition is caused by a microdeletion involving the elastin gene (6\u20138). Since 1995, it has been possible to detect this deletion using in situ hybridisation techniques with a probe specific to the 7q11.23 region (Elastin Williams Syndrome Chromosome Region).<\/p>\n
In addition to the most common features that enable diagnosis \u2013 namely delayed psychomotor development, cardiovascular abnormalities, growth retardation, distinctive facial features and an extroverted personality \u2013 there are certain ENT abnormalities that are almost always present (1, 9\u201313).<\/p>\n
Hyperacusis, or hypersensitivity to sound, is reported in 85 to 95 % of cases of children with Williams syndrome, with its incidence decreasing slightly upon reaching adulthood (2, 5, 13\u201318). An increased susceptibility to otitis media (acute otitis media and otitis media with effusion) (12, 17) and a particularly well-developed auditory memory (19), as well as a low-pitched voice (5, 8, 18), have also been described in these children. In this prospective study of 10 patients, we investigated existing ENT abnormalities, with a particular focus on hyperacusis.<\/p>","protected":false},"excerpt":{"rendered":"
M. Coutinho<\/p>","protected":false},"featured_media":0,"template":"","categories":[33],"class_list":["post-1872","artigos-cientificos","type-artigos-cientificos","status-publish","hentry","category-artigos"],"acf":[],"yoast_head":"\n