THE BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME - DELINEATION OF 2 TYPES

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  • 1 January 1983
    • journal article
    • research article
    • Vol. 35  (5) , 1020-1027
Abstract
The blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is rare and autosomal dominant. A family is presented and analyzed together with 38 kindreds with BPES reported in the literature. There are 2 types of the syndrome: type 1 with infertility in affected females, and type II which is transmitted by females and males. The 2 entities are further differentiated by incomplete penetrance only in type II and by differences in the sex ratios of the affected children. Female infertility in type I is a predominant symptom, and the distinction between the 2 types is of importance for genetic counselling.