Natori N
Natori Clinic, Kakuda, Japan.
Jpn J Hum Genet. 1992 Sep;37(3):235-9. doi: 10.1007/BF01900718.
The patient was a 9-year-old boy. He began to walk at the age 1 year and 8 months and began to speak at the age of 2 years, suggesting retarded mental and motor development. A diagnosis of DMD was made when he was 7 years old. On admission, the patient exhibited a peculiar thin and long face, large auricles, narrow palate, malalignment of the teeth, epicanthus, saddle nose, and simian lines in addition to symptoms consistent with DMD. Chromosome analysis showed fragile X at Xq27 at a frequency of 20%. His mother also showed fragile X at the same position. Since the atypical features of this DMD patient are all explained as fragile X syndrome, this case was considered to be a very rare instance of DMD whose clinical pictures were modified by fragile X syndrome.
该患者是一名9岁男孩。他在1岁8个月时开始走路，2岁时开始说话，提示智力和运动发育迟缓。他7岁时被诊断为杜氏肌营养不良症（DMD）。入院时，该患者除了有与DMD相符的症状外，还表现出奇特的瘦长脸、大耳廓、窄腭、牙齿排列不齐、内眦赘皮、鞍鼻和猿线。染色体分析显示，Xq27处有脆性X，频率为20%。他的母亲在同一位置也显示有脆性X。由于该DMD患者的非典型特征都可解释为脆性X综合征，因此该病例被认为是非常罕见的DMD病例，其临床表现因脆性X综合征而改变。
