Clinical and echocardiographic manifestations of Williams syndrome:Report of 2 cases and review of literature
10.13929/j.issn.1672-8475.2025.05.007
- VernacularTitle:威廉姆斯综合征临床及超声心动图表现:2例报道及文献回顾
- Author:
Hongxia SU
1
;
Shunli WU
;
Hao LI
;
Weiwei LIU
;
Bingdi ZHAO
;
Jiancheng ZHANG
;
Hongying WANG
Author Information
1. 甘肃医学院附属医院超声科,甘肃 平凉 744000
- Publication Type:Journal Article
- Keywords:
Williams syndrome;
echocardiography
- From:
Chinese Journal of Interventional Imaging and Therapy
2025;22(5):332-335
- CountryChina
- Language:Chinese
-
Abstract:
Objective To observe the clinical and echocardiographic manifestations of Williams syndrome(WS).Methods Two children with WS were retrospectively enrolled,and 21 cases of WS in literature were reviewed,and clinical and echocardiographic manifestations of WS were observed.Results Clinical manifestations of 23 cases including 21 cases of"elf"face,8 cases of intellectual disability,7 cases of developmental delay,7 cases of inguinal hernia,6 cases of hypothyroidism,4 cases of hypercalcemia,3 cases of urinary system abnormalities(1 case of hydrocele,1 case of ureteral dilation and tortuosity,and 1 case of kidney stones),2 cases of behavioral abnormalities,2 cases of feeding difficulties,1 case of congenital hypertrophic pyloric stenosis,1 case of binocular esotropia,1 case of hyperbilirubinemia,and 1 case of corpus callosum dysplasia.Echocardiography showed cardiovascular malformations in all 23 cases,including 20 cases of supravalvular aortic stenosis(SVAS),18 cases of pulmonary artery stenosis(PAS)and 10 cases of other cardiovascular malformations.Conclusion WS presented multiple system abnormalities in clinic,and cardiovascular malformations,especially SVAS and PAS could often be detected with echocardiography.
