Kimberly G. Yen, MD


September 14, 2011

Clinical Presentation

A 16-month-old girl presented to the eye clinic for evaluation of her eyelids, which had been droopy since birth. Her mother stated that the child was healthy but has always preferred to lift her chin up in order to see. The mother believed that the child could see well when she used this chin-up head position. She also reported that no other family members had droopy eyelids or other ocular conditions. The child was developmentally normal, and she had no problems during pregnancy or childbirth.

On examination, the child was able to fix and follow with each eye equally. She preferred a chin-up head position to view objects and used her brows extensively in order to lift her eyelids. She had bilateral ptosis, epicanthus inversus, and telecanthus (Figure). Her palpebral fissures were 3 mm on each side in primary head position. Pupils were normal bilaterally, and she was orthophoric on examination with full motility. The remainder of her ocular examination, including anterior segment and fundus, was normal. She did not have a significant refractive error.

Figure. The patient image shows bilateral ptosis, epicanthus inversus, and telecanthus.

Question 1. Which of the following is not a salient feature of blepharophimosis syndrome?

A. Ptosis
B. Telecanthus
C. Epicanthus inversus
D. Entropion

View the correct answer.


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