[Williams-Beuren syndrome in Norway].
The author describes the Williams-Beuren syndrome and the cases of 57 patients in an attempt to increase awareness of the syndrome, which probably is underdiagnosed. Its characteristic features are a combination of a special facial appearance and a mental condition: The face typically shows a broad, flattened upper lip, small chin, and hypoplasia of teeth, often strabism, flattened nasal bridge and fullness around the eyes. Mentally the patients appear to be happy, talkative, pleasant children, who are indiscriminatingly friendly and have serious difficulties in concentrating. Only 53% of the patients have an affected heart, of whom 93% have supravalvular aortic stenosis, peripheral pulmonic stenoses or combinations of the two. Nine patients have had heart operations. The facial features in children of different age groups and races are depicted.
Bjørnstad
P G
PG
Barnehjerteseksjonen Rikshospitalet, Oslo.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology; D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000175:diagnosis* / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology; D008297:Male; D009664:Norway / Q000453:epidemiology; D013577:Syndrome
Williams-Beurens syndrom i Norge.