Orbitoblepharophimosis syndrome: a 16-year perspective.

Abstract

The orbitoblepharophimosis syndrome is a congenital malformation of the orbitopalpebral region. It is an autosomal-dominant condition typified by palpebral and orbital phimosis, ptosis, epicanthus inversus with telecanthus, and enophthalmia. It has three forms: minor, major, and extreme. It is a rare malformation affecting both sexes. The gene responsible is 3q21-24. Surgical treatment involves three to four operations: orbital remodeling by burring and grafting (intraorbital and extraorbital), epicanthus correction, and ptosis operation. Results varied depending on the severity of the form and the quality of the tissues. The authors present a series of 50 patients who were treated for this syndrome over the past 16 years.