A case of atypical Duchenne type muscular dystrophy with fragile X

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.