The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.
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. The results demonstrate the existence of two types of the syndrome: type I with infertility in affected females, and type II which is transmitted by females and males. The two 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 two types is of importance for genetic counseling.
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012744:Sex Ratio; D013577:Syndrome