[Blepharophimosis, ptosis and epicanthus inversus].
Blepharophimosis, ptosis and epicanthus inversus is a rare well-documented autosomal dominant disorder. Described here is a family with typical features of this syndrome in eleven cases in five generations. Syndrome is discussed and blepharophimosis underlined. Blepharophimosis is also a minor defect in the contest of complex malformation syndromes having different aetiology (mendelian inheritance, chromosomal abnormality, toxic agents). The Authors believe that blepharophimosis, for its clinical evidence, is an important guide sign.
D001763:Blepharoptosis / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D010375:Pedigree
Blefarofimosi, ptosi ed epicanto inverso.