Sindrome de la blefarofimosis familiar: estudio de dos familias colombianas y dos casos esporadicos / Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases

RESUMEN

El sindrome denominado blefarofimosis familiar comprende varias anomalias asociadas entre las cuales se destacan blefarofimosis, blefaroptosis, epicanto inverso y telecanto. Se hereda en forma autosomica dominante con una penetrancia completa. Se han informado en la literatura aproximadamente 180 casos, a los cuales se adicionan 23 detectados en las 2 familias colombianos que estamos reportando a traves de 3 y 4 generaciones (familias A y B respectivamente) y dos esporadicos. Se discuten aspectos clinicos, embriologicos y geneticos relacionados con el sindrome

ABSTRACT

The blepharophimosis syndrome includes several associated anomalies, namely blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus. It is inherited as an autosomal dominant defect with essentially 100% penetrance. To the nearly 180 previously reported cases our report adds another 25 occurring in two colombian families through 3 and 4 generations (23 cases) and in 2 sporadic cases. Some related clinical, embryological and genetic aspects of this syndrome are discussed