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  • Title: Opitz BBBG syndrome: new family with late-onset, serious complication.
    Author: Schrander J, Schrander-Stumpel C, Berg J, Frias JL.
    Journal: Clin Genet; 1995 Aug; 48(2):76-9. PubMed ID: 7586655.
    Abstract:
    The Opitz BBBG syndrome is characterized by hypertelorism and (in male patients) hypospadias, in addition to a number of midline abnormalities: posterior laryngeal cleft, stridor, swallowing dysfunction, cardiac defects, imperforate anus, and urinary tract and CNS anomalies. Inheritance is autosomal dominant (McKusick number *145410) with partial male sex limitation in most pedigrees. We report a Dutch family with Opitz BBBG syndrome in which the proband developed late-onset symptoms of a structural laryngeal abnormality.
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