Affiliations: Retired, The Children's Hospitals, Manchester, United
Kingdom
Note: [] Correspondence: Neil Gordon, M.D., FRCP, Hon FRCPCH, Huntlywood,
3 Styal Road, Wilmslow, SK9 4AE, United Kingdom. Tel.: +44 1625 525437; E-mail:
[email protected]
Abstract: Williams syndrome is a rare genetically determined syndrome in which
studies have shown a number of unusual physical and mental abnormalities. These
may well lead to an increased understanding of the causes of the syndrome in
the future. The symptoms and signs are described, especially the facial
appearance, the incidence of hypercalcemia, and the cardiovascular
complications. A number of studies have been done on the mental impairment of
children with Williams syndrome, and their excessive friendliness is often
emphasized. However, in spite of their language fluency they may well have
pragmatic disorders, which warrant treatment. The learning of visual-spatial
material can often be a problem, and one that persists into adult life. The
cerebral pathology shows a number of correlations with clinical findings, such
as the learning difficulties, in particular visual processing; hyperacusis; and
unexpected musical skills. The clinical findings will suggest the diagnosis,
but this may well depend on having seen similarly affected children before; and
will be confirmed by genetic studies. The prognosis can be favorable. Treatment
can help the symptoms of hypercalcemia and hypothyroidism, and surgery for
aortic supravalvular stenosis is sometimes possible.
Keywords: Williams syndrome, symptoms, signs, pathology, diagnosis, treatment
