Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is an extremely rare genetic developmental condition, with hallmark findings of ocular malformation. It has two subtypes, both of which include the eponymous oculofacial features. Type I consists of premature ovarian failure (POF) plus ocular malformations while Type II has the physical features alone. The syndrome's estimated prevalence globally is 1 in 50,000 births with current understanding showing no difference based on ethnicity, sex, race or age. There has been one family pedigree with BPES II previously reported from another region of Pakistan. To our knowledge, we report here the first ever case of BPES I from Pakistan, coincidentally with 2 affected siblings.
|Journal||Journal of Clinical and Translational Endocrinology: Case Reports|
|Publication status||Published - Sept 2020|
- (POF) premature ovarian failure
- Blepharophimosis ptosis epicanthus inversus syndrome (BPES)
- Primary ovarian failure