Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Abstract

Although von Ammon' first used the term blephar- phimosis in 1841, it was Vignes2 in 1889 who first associated blepharophimosis with ptosis and epican- thus inversus. In 1921, Dimitry3 reported a family in which there were 21 affected subjects in five generations. He described them as having ptosis alone and did not specify any other features, although photographs in the report show that they probably had the full syndrome. Dimitry's pedigree was updated by Owens et a/ in 1960. The syndrome appeared in both sexes and was transmitted as a Mendelian dominant.