Lopez-Rangel E, Maurice M, McGillivray B, Friedman J M
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1992 Dec 1;44(6):720-9. doi: 10.1002/ajmg.1320440605.
There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.
关于成年威廉姆斯综合征（WS）患者的已发表报告较少。我们评估了10名成年WS患者。我们研究中的患者临床表现差异很大，从有复杂病史的严重患者到一般健康状况良好的轻度患者都有。心血管异常和高血压很常见。4名患者出现主动脉瓣上狭窄，3名患者出现二尖瓣脱垂，1名患者出现二叶式主动脉瓣，1名患者出现瓣膜性主动脉狭窄，1名患者出现伴有右心室肥大的肺动脉狭窄。典型的面部特征包括星状虹膜、突出的脸颊、丰满的嘴唇和小颌。所有患者均有智力障碍。语言能力比运动技能发育得更好。我们研究中的所有患者都过着积极的生活，大多数人都参与体育运动。有些人从事有监督的工作。我们的8名患者与父母同住，2名住在集体之家。独立生活受到他们智力和适应能力限制的制约。
