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Blepharophimosis–ptosis–epicanthus inversus syndrome [BPES (OMIM#110100)] is a rare autosomal dominant condition characterized by the following four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus (Oley and Baraitser, 1988). Two types… Click to show full abstract
Blepharophimosis–ptosis–epicanthus inversus syndrome [BPES (OMIM#110100)] is a rare autosomal dominant condition characterized by the following four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus (Oley and Baraitser, 1988). Two types of BPES have been recognized to date. Type 1 is characterized by these eyelid malformations together with premature ovarian failure (POF). Type 2 is characterized by the eyelid malformations without additional features (Zlotogora et al., 1983). [...]
Journal Title: Clinical Dysmorphology
Year Published: 2018
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