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  • Title: [Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].
    Author: Le Merrer M, Verloes A, Narcy P, Briard ML.
    Journal: J Genet Hum; 1988 Jun; 36(3):257-64. PubMed ID: 3411306.
    Abstract:
    We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.
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