Al-Semari Abdulaziz, Wakil Salma M, Al-Muhaizea Mohammad A, Dababo Mohammed, Al-Amr Rana, Alkuraya Fowzan, Meyer Brian F
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Clin Dysmorphol. 2013 Jan;22(1):13-7. doi: 10.1097/MCD.0b013e32835b6dc4.
In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
在本报告中，我们描述了一个家族，其中五名受影响男性表现出许多Aarskog-Scott综合征广为人知的特征。通过鉴定FGD1基因的一种新型无义突变得以确诊，该病症伴有对称性远端关节病及肌病的肌电图体征。在评估未来患者时应考虑这些特征。
