Nicholson W R, Hockey K A
Child Development Centre, Perth, Australia.
J Paediatr Child Health. 1993 Dec;29(6):468-72. doi: 10.1111/j.1440-1754.1993.tb03023.x.
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.
对西澳大利亚州的18名威廉姆斯综合征患者进行了调查。其中9名是成年人。大多数患者（72%）最初表现为发育迟缓。诊断的平均年龄为35个月，超过半数的病例由普通儿科医生做出诊断。三分之二的被调查者有明显的心杂音，8人有主动脉瓣上狭窄的特征。22%的患者发现外周循环减弱。一半患者有轻度肌肉骨骼异常，关节挛缩最为常见。三分之一的病例存在慢性或复发性泌尿系统症状。与儿童相比，成年人的身高百分位数往往较低，且更肥胖。威廉姆斯综合征的早期诊断仍然难以捉摸。可能会出现各种各样的并发症。
