Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait.

摘要: • The syndrome of blepharophimosis, ptosis, and epicanthus inversus is a rare but well-documented autosomal dominant disorder. Although inheritance has been repeatedly confirmed, several observers have noted that transmission the trait predominantly through an affected male parent. To our knowledge, no published observations accounted for this unusual differential transmission. Described here family with typical features disorder in addition primary amenorrhea women. amenorrhea, which not previously documented disorder, does account possibly other families. Since individuals are treated by ophthalmologists, possible occurrence extraocular manifestation should be recognized management patients their