[Williams-beuren-syndrome (author's transl)].
In the initial descriptions of the elfin-facies-syndrome by Williams and Beuren, supravalvular aortic stenosis was considered to be a constant feature of the syndrome, combined with retardation of mental and physical development, dentition anomalies and the peculiar face. According to newer findings, the missing of this deformity is no proof against the existence of the above-mentioned syndrome. Usually an elevation of the calcium-level is not found in the serum of these children, although there seems to be some relation to the calcium-metabolism. The characteristic picture of this deformity is demonstrated by two, very typical cases.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002128:Calcium Metabolism Disorders / Q000175:diagnosis; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D002675:Child, Preschool; D005149:Facial Expression; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis
Beitrag zum Williams-Beuren-Syndrom