Abstract：
Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.
摘要：
脆性X综合征（FXS）是一种遗传性遗传病，是遗传性智力发育障碍的主要已知原因。表型，具有FXS的个体也具有不同的身体特征，包括，拉长的脸，突出的耳朵,漏斗胸,大案，关节松弛，提示结缔组织发育不良.除了二尖瓣脱垂,已在FXS患者中发现主动脉扩张。在皮肤中发现了异常的弹性蛋白纤维网络，阀门,和主动脉在个别情况下。主动脉扩张已在其他结缔组织疾病中被描述，尤其是马凡氏综合症。然而,而主动脉瘤是马凡氏综合征的特征,迄今为止,在FXS患者中没有类似病例的报道.此病例报告详细介绍了两名FXS和主动脉瘤患者的表现。我们的两个案例强调了FXS主动脉病变的风险，和需要监测无症状的显著主动脉扩张患者。
