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Hereditary syndrome affecting the eyelids, with the clinical symptom triad of blepharophimosis, ptosis, and epicanthus inversus (fold curving in the mediolateral direction inferior to the inner canthus).

Hereditary Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome; Blepharophimosis Sequence; Blepharophimosis Syndrome; Blepharophimosis-Ptosis-Epicanthus Inversus-Primary Amenorrhea Syndrome; Blepharophimosis-Ptosis-Epicanthus Inversus-Telecanthus Complex; Blepharoptosis-Blepharophimosis-Epicanthus Inversus-Telecanthus Syndrome; Blepharophimosis-Ptosis-Epicanthus Syndrome with (BPES I)/without (BPES II) Ovarian Failure.

Rare syndrome with unknown incidence.

Autosomal dominant transmitted disorder, but 50% of cases occur without a family history. In sporadic cases, there seems to be an apparent maternal (but not paternal) age effect. Two types of the syndrome exist: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) type I with infertility in affected females is transmitted by affected males to their offspring, and BPES type II with normal fertility is transmitted by females and males. Female infertility in BPES type I is a predominant symptom and the distinction between the two types is important for genetic counseling. Infertility is inherited as an autosomal dominant sex-limited trait. Infertility seems to be associated with a nonsense mutation of the gene encoding a Forkhead transcription factor, Forkhead L2 (FOXL2), which seems to be involved in ovarian follicle stiumulation and steroid biosynthesis. The two entities are further differentiated by incomplete penetrance in BPES type II only and by difference in the sex ratios of affected children. The gene locus has been mapped to 3q22.3-23.


Made by clinical picture and family history.

Literally, blepharophimosis means narrowing of the eyelid. In BPES, the horizontal palpebral aperture is reduced and associated with eyelid dysplasia, ptosis, telecanthus, and epicanthus inversus. Affected females with BPES type I have a small uterus with primary amenorrhea, infertility, and primary ovarian failure as a result of hypoplastic ovaries. Breast development is normal, pubic and axillary hair is scant but normal in distribution. Gonadotropin levels are elevated, estrogen and progesterone levels decreased. A low nasal bridge may be an additional finding and mental retardation may occur, especially in sporadic cases.

No specific anesthetic precautions are required because there is no evident impairment of general health in BPES. However, older female patients with BPES type I may have premature osteoporosis and require caution with positioning.

Considerations are not different from healthy patients undergoing the same procedure. Especially in younger patients undergoing ophthalmic examination under general anesthesia, oculocardiac reflex with profound bradycardia should be expected. The treatment is twofold and includes first stopping the stimulation and second, if still necessary, anticholinergic drugs.

No known pharmacological implications.

Other blepharophimosis-ptosis syndromes including the following:

Acro-Fronto-Facio-Nasal Dysostosis Syndrome (Type I and II): Frontonasal dysostosis, retarded growth, and mental development. Brachycephaly, broad notched nasal tip, and cleft lip/palate and macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal phalanges of the hands. Iliac hypoplasia, short legs and hypospadias.

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