Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Sabiha Banu; Abdul Aziz; Salman Kirmani; Sarah Nadeem

doi:10.1016/j.jecr.2020.100068

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Sabiha Banu, Abdul Aziz, Salman Kirmani, Sarah Nadeem

Human Development Programme, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	100068
Journal	Journal of Clinical and Translational Endocrinology: Case Reports
Volume	17
DOIs	https://doi.org/10.1016/j.jecr.2020.100068
Publication status	Published - Sept 2020

Keywords

(POF) premature ovarian failure
Blepharophimosis ptosis epicanthus inversus syndrome (BPES)
Primary ovarian failure

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.jecr.2020.100068

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title = "Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report",

abstract = "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.",

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AU - Aziz, Abdul

AU - Kirmani, Salman

AU - Nadeem, Sarah

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Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Abstract

Keywords

UN SDGs

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