WILLIAMS SYNDROME IN ADULTS

被引:36
作者
LOPEZRANGEL, E [1 ]
MAURICE, M [1 ]
MCGILLIVRAY, B [1 ]
FRIEDMAN, JM [1 ]
机构
[1] UNIV BRITISH COLUMBIA HOSP, DEPT MED GENET, SHAUGHNESSY SITE, 4490 OAK ST, VANCOUVER V6H 3V5, BC, CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期
关键词
WILLIAMS SYNDROME; CARDIOVASCULAR; FACIAL ANOMALIES; DEVELOPMENTAL DELAY;
D O I
10.1002/ajmg.1320440605
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:720 / 729
页数:10
相关论文
共 10 条
  • [1] ADULTS WITH WILLIAMS SYNDROME
    FRYNS, JP
    BORGHGRAEF, M
    VOLCKE, P
    VANDENBERGHE, H
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (02): : 253 - 253
  • [2] GREEN JE, 1990, AIDS RES HUM RETROV, V6, P85
  • [3] WILLIAMS ELFIN FACIES SYNDROME - NEW PERSPECTIVE
    JONES, KL
    SMITH, DW
    [J]. JOURNAL OF PEDIATRICS, 1975, 86 (05) : 718 - 723
  • [4] KAPLAN P, 1989, PEDIATRICS, V84, P895
  • [5] MCKUSICK V, 1990, MENDELIAN INHERITANC, P979
  • [6] MORRIS CA, 1990, AM J MED GENET, P100
  • [7] MORRIS CA, 1990, AM J MED GENET, P102
  • [8] NATURAL-HISTORY OF WILLIAMS SYNDROME - PHYSICAL CHARACTERISTICS
    MORRIS, CA
    DEMSEY, SA
    LEONARD, CO
    DILTS, C
    BLACKBURN, BL
    [J]. JOURNAL OF PEDIATRICS, 1988, 113 (02) : 318 - 326
  • [9] PAGON RA, 1987, PEDIATRICS, V80, P85
  • [10] SUPRAVALVULAR AORTIC STENOSIS
    WILLIAMS, JC
    LOWE, JB
    BARRATTBOYES, BG
    [J]. CIRCULATION, 1961, 24 (06) : 1311 - +