Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters.

@article{Amano1995BlepharophimosisPE,
  title={Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters.},
  author={Takashi Amano and Yuzo Shibuya and Seiji Hayasaka},
  journal={Japanese journal of ophthalmology},
  year={1995},
  volume={39 2},
  pages={172-6}
}
Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis… CONTINUE READING