1例Baraitser-Winter综合征患者的Ross手术：病例报告
The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report.
作者信息
Alotabi Raghad A, Alamri Orjowan Z, Alenezi Shahad E, Suliman Ihab
机构信息
Medicine, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Riyadh, SAU.
Cardiology, King Abdulaziz Medical City, King Abdulaziz Cardiac Center, Ministry of National Guard Health Affairs, Riyadh, SAU.
出版信息
Cureus. 2024 Jan 15;16(1):e52331. doi: 10.7759/cureus.52331. eCollection 2024 Jan.
Baraitser-Winter syndrome (BRWS) is a rare genetic disorder caused by mutations in the ACTB and ACTG1 genes. It is characterized by intellectual disability, physical malformations, and dysmorphic craniofacial features. Additionally, cardiovascular abnormalities may also be present. We present a case of a 15-year-old boy with BRWS associated with congenital bicuspid aortic valve and severe aortic insufficiency which was managed successfully with Ross procedure.
巴拉伊泽-温特综合征（BRWS）是一种由ACTB和ACTG1基因突变引起的罕见遗传性疾病。其特征为智力残疾、身体畸形以及颅面部畸形特征。此外，也可能存在心血管异常。我们报告一例15岁患有BRWS并伴有先天性二叶式主动脉瓣和严重主动脉瓣关闭不全的男孩病例，该病例通过罗斯手术成功得到治疗。
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