The syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus has become recognized as a distinct tetrad based upon clinical and hereditary characteristics. Since its collation only the increased association with amenorrhea has been added to its spectrum of features. Presented is a case of this syndrome with the additional findings of posterior ectopia of the lower puncta and aplasia of the upper puncta, previously unreported.
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Roger Kohn (1983) studied this question.
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