BPES syndrome
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Acronym for Blepharophimosis-Ptosis-Epicanthus inversus Syndrome.
Rare. Autosomal dominant transmission of a mutation of the FOXL2 gene on 3q22.3. As suggested by the name, it consists essentially in anomalies of the eyelids:
- ptosis
- blepharophimosis
- inverse epicanthus: a skin fold with external concavity comes from the lower eyelid and partly covers the internal part of the upper eyelid.
Sometimes also: microphthalmos, myopia, strabismus, optic nerve hypoplasia.
Two different types:
- type I, where ocular anomalies are associated with early menopause by ovarian failure ( hypergonadotrophic hypogonadism with premature menopause)
- type II where ocular anomalies are isolated.
Facial anomalies are often associated: flat nasal bridge, small mouth opening, arched palate.
Anesthetic implications:
risk of difficult intubation
References :
- Baidya DK, Khanna P, Kumar A, Shende D.
Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery.
J Anaesthesiol Clin Pharmacol 2011; 27: 550-2.
Updated: November 2019