Anthony J. W. Liu; Catherine Sy; Ralph Nanan
A 2-day-old male infant was seen for not opening his eyes since birth. Clinical examination showed bilateral ptosis, narrow palpebral fissures, and epicanthus inversus. The rest of his examination was unremarkable and there was no significant family history.
What’s Your Diagnosis?
The correct answer to What’s Your Diagnosis? is blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
- Vignes A. Epicanthus hereditaire. Rev Gen Ophthalmot (Paris). 1889;8:438–439.
- Owens N, Hadley RC, Kloepfer HW. Hereditary blepharophimosis, ptosis and epicanthus inversus. J Intern Coll Surg. 1960;33:558–574.
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM #110100: 10/30/2008: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.