Brief Clinical Report: coloboma hypospadias.
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.
D002648:Child; D002877:Chromosomes, Human / Q000648:ultrastructure; D003103:Coloboma / Q000235:genetics*; D003878:Dermatoglyphics; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome