Abstract
Eighteen individuals in Western Australia with Williams syndrome were surveyed. Nine were adults. The majority (72%) presented initially because of developmental delay. The diagnosis was made at an average age of 35 months and in over half the cases was made by general paediatricians. Two-thirds of those surveyed had a significant cardiac murmur and eight had features of supravalvular aortic stenosis. Reduced peripheral circulation was found in 22%. One half had mild musculoskeletal abnormalities, joint contractures being the most common. Chronic or recurrent urinary symptoms were present in one-third of cases. Adults tended to be on a lower height centile and were more obese compared to children. The early diagnosis of Williams syndrome remains elusive. A wide range of complications may develop.
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