Williams syndrome: a clinical study of children and adults.
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.
Nicholson
W R
WR
Child Development Centre, Perth, Australia.
Hockey
K A
KA
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D001024:Aortic Valve Stenosis / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003248:Constipation / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis; D008607:Intellectual Disability / Q000175:diagnosis*; D013577:Syndrome