Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038379 (
strabismus
)
9,317
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
J Pediatr Ophthalmol
Strabismus
PMID:Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. 686 29
