BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME (BPES) AND CLEFT-LIP AND PALATE - REPORT OF 2 BRAZILIAN FAMILIES

We have evaluated a girl and a boy with the blepharophimosis, ptosis a nd epicanthus inversus syndrome (BPES). The girl presented cleft palat e and the boy showed cleft lip and palate as additional clinical signs . Both showed familial recurrence in fourth and third generations, res pectively. The other family members also presented blepharophimosis, p tosis, and epicanthus inversus, but without lip and palatal involvemen t. There were no additional clinical signs nor infertility in these pa tients. To our knowledge this is the first instance of cleft lip and p alate reported as additional signs of the BPES syndrome.