Olguntürk F R, Tunaoglu F S, Gümüs H, Beyazova U, Türkyilmaz C
Department of Pediatric Cardiology, School of Medicine, Gazi University, Ankara, Turkey.
Angiology. 1993 Nov;44(11):909-13. doi: 10.1177/000331979304401110.
A three-year-old boy with the diagnosis of Ehlers-Danlos syndrome (EDS) with persistent ductus arteriosus and multiple diffuse arterial aneurysms is presented. The case is classified as "EDS type unknown" because the clinical features and the inheritance pattern differ from the types described previously. It is stressed that the diagnosis of the disease is important for genetic counseling and surgical intervention.
本文报告了一名三岁男孩,诊断为埃勒斯-当洛综合征(EDS),伴有动脉导管未闭和多发弥漫性动脉瘤。由于临床特征和遗传模式与先前描述的类型不同,该病例被归类为“EDS类型不明”。强调了疾病诊断对于遗传咨询和手术干预的重要性。