Brief Clinical Report: coloboma hypospadias

Abstract

We report a five-year-old boy with bilateral ocular coloboma, hypertelorism, hypospadias, and mental retardation. The father has hypertelorism and a deceased sibling had unilateral iris coloboma. This observation my represent 1) the BBB syndrome with coincidentally segregating coloboma; 2) discovery of coloboma as a new but rare component manifestation of the BBB syndrome; or 3) a new autosomal dominant pleiotropic syndrome.