Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus.
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.
D001763:Blepharoptosis / Q000473:pathology*; D002675:Child, Preschool; D005141:Eyelid Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000473:pathology*; D013577:Syndrome