Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. 1983

R Kohn

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.

UI MeSH Term Description Entries
D007766 Lacrimal Apparatus Diseases Diseases of the LACRIMAL APPARATUS. Epiphora,Apparatus Disease, Lacrimal,Apparatus Diseases, Lacrimal,Disease, Lacrimal Apparatus,Diseases, Lacrimal Apparatus,Epiphoras,Lacrimal Apparatus Disease
D001763 Blepharoptosis Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. Ptosis, Eyelid,Blepharoptoses,Eyelid Ptoses,Eyelid Ptosis,Ptoses, Eyelid
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005141 Eyelid Diseases Diseases involving the EYELIDS. Disease, Eyelid,Diseases, Eyelid,Eyelid Disease
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

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