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Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES)

1996; Wiley; Volume: 74; Issue: 1 Linguagem: Inglês

10.1111/j.1600-0420.1996.tb00680.x

1600-0420

Petter Strømme, Frode D. Sandboe,

Prenatal Screening and Diagnostics

ABSTRACT The blepharophimosis‐ptosis‐epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis‐ptosis‐epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis‐ptosis‐epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22.