OPITZ BBBG SYNDROME - NEW FAMILY WITH LATE-ONSET, SERIOUS COMPLICATION

The Opitz BBBG syndrome is characterized by hypertelorism and (in male patients) hypospadias, in addition to a number of midline abnormaliti es: posterior laryngeal cleft, strider, swallowing dysfunction, cardia c defects, imperforate anus, and urinary tract and CNS anomalies. Inhe ritance is autosomal dominant (McKusick number 145410) with partial m ale sex limitation in most pedigrees. We report a Dutch family with Op itz BBBG syndrome in which the proband developed late-onset symptoms o f a structural laryngeal abnormality.