Blepharoptosis, Blepharophimosis, Epicanthus Inversus, and Telecanthus—A Syndrome by No Name

摘要: Over the past 50 years, there have been numerous reports" of triad blepharoptosis, blepharophimosis, and epicanthus inversus. The consistency its hereditary background make it a true clinical syndrome, yet has escaped both colla­ tion appellation over years. This paper presents collection com­ parison all cases previously reported. We think these illustrate that fourth finding, telecanthus, is so consistent should be added to triad. A family with this syn­ drome several associated features not described also In 1921, Komoto first case triad, patient who had, in addition, wide set eyes, ectropion, excessive brow hair, hypoplasia caruncle plica semilunaris. Three unspecified relatives were reported same disorder. Later year, Dimitry "blepharophimosis." He did specify other findings, but from photo­ graphs accompanying his report, appears had complete Dim­ itry did, however, trace pedigree "blepharophimosis," which longest (after revision by Owens 1960) syndrome (Fig. 1). pedigree, sexes transmitted as Mendelian dominant characteristic. mode inher­ itance now well documented. Since early descriptions, 125 addi­ tional Of these, 12 male, six female, 107, sex was