Blepharophimosis Syndrome 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 232c27c ; 155
General: Dominantly inherited tetrad of ptosis, epicanthus inversus, telecanthus, and blepharophimosis.
Ocular: Scarred or contracted in secondary blepharophimosis because of ocular pemphigus or trachoma; ectropion; epicanthus inversus; lacrimal puncta displacement; ptosis; telecanthus; optic nerve coloboma; angle dysgenesis; optic nerve hypoplasia; amblyopia; strabismus.
Clinical: Low-set ears; low nasal bridge.
Beaconsfield M, et al Visual development in the blepharophimosis syndrome. Br J Ophthalmol 1991; 75:746-748.
Chismire KJ, Witkop GS. Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. Am J Ophthalmol 1994; 117:676-677.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus: a syndrome with no name. Am J Ophthalmol 1971; 72:625-632.
Owens V; et al Hereditary blepharophimosis, ptosis, and epicanthus inversus. J Int Coll Surg 1960; 33:558-574.
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