Blepharophimosis with associated cup-lop ears.
Blepharophimosis is a rare congenital triad consisting of epicanthus inversus, blepharoptosis, and a wider than normal intercanthal distance. Attention has recently been drawn to abnormalities of the eyebrow and the poorly developed nasal bridge. I record 9 cases of blepharophimosis associated with cup-lop ears seen over the last 15 years. These include a father and his 4 children.
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D004483:Ectropion / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome