Haenggeli C A, Moura-Serra J, DeLozier-Blanchet C D
Department of Pediatrics, University of Geneva, Switzerland.
J Autism Dev Disord. 1990 Mar;20(1):129-38. doi: 10.1007/BF02206862.
We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.
我们介绍了两名患有雷特综合征姐妹的临床病史和体格检查结果。体格检查结合她们的病历回顾发现,两名患者均符合雷特综合征诊断标准工作组所定义的雷特综合征诊断必要标准。姐姐目前25岁,是典型病例,而妹妹目前22岁,患有癫痫障碍,发病异常早。