| 苏红霞,吴顺利,李浩,刘维维,赵冰弟,张建成,王红鹰.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[J].中国介入影像与治疗学,2025,22(5):332-335 |
| 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 |
| Clinical and echocardiographic manifestations of Williams syndrome: Report of 2 cases and review of literature |
| 投稿时间：2025-02-07 修订日期：2025-04-21 |
| DOI：10.13929/j.issn.1672-8475.2025.05.007 |
| 中文关键词: 威廉姆斯综合征 超声心动描记术 |
| 英文关键词:Williams syndrome echocardiography |
| 基金项目: |
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| 中文摘要: |
| 目的 观察威廉姆斯综合征（WS）临床及超声心动图表现。方法 回顾性纳入2例WS患儿，结合既往文献报道的21例分析WS临床及超声心动图表现。结果 23例中，临床表现为小精灵面容21例，智力低下8例，发育迟缓及腹股沟疝各7例，甲状腺功能减退6例，高钙血症4例，泌尿系统畸形3例（鞘膜积液、输尿管扩张纡曲及肾结石各1例），行为异常及喂养困难各2例，先天性肥厚性幽门狭窄、双眼内斜视、高胆红素血症及胼胝体发育不良各1例。23例超声心动图均可见心血管畸形，包括主动脉瓣上狭窄（SVAS）20例、肺动脉狭窄（PAS）18例及其他心血管畸形10例。结论 WS临床表现为多系统异常；超声心动图常见心血管畸形以SVAS及PAS为主。 |
| 英文摘要: |
| 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. |
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