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  • Title: Brief Clinical Report: coloboma hypospadias.
    Author: Halal F, Farsky K.
    Journal: Am J Med Genet; 1981; 8(1):53-8. PubMed ID: 7246606.
    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.
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