Williams-Beuren syndrome is a multisystem disorder caused by microdeletion of chromosome No. 7 at the 7q11.23 band. The physical phenotype includes typical facial dysmorphism with a flat nasal bridge, short… Click to show full abstract
Williams-Beuren syndrome is a multisystem disorder caused by microdeletion of chromosome No. 7 at the 7q11.23 band. The physical phenotype includes typical facial dysmorphism with a flat nasal bridge, short upturned nose, periorbital puffiness, long philtrum and delicate chin. Common features include supravalvular aortic stenosis, mental retardation, learning disabilities, growth delay, infantile hypercalcemia, hyperacusis, feeding difficulties, scoliosis, strabismus and oral abnormalities.
               
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