Opitz BBBG syndrome: new family with late-onset, serious complication |
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| Authors: | Jaap Schrander Connie Schrander-Stumpel Jelle Berg Jaime L. Frias |
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| Affiliation: | Department of Pediatrics, University of Limburg, Maastricht, The Netherlands;Department of Clinical Genetics, University of Limburg, Maastricht, The Netherlands;Department of Otolaryngology, University of Limburg, Maastricht, The Netherlands;Department of Pediatrics, University of South Florida, Tampa, USA |
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| 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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| Keywords: | laryngeal abnormality midline defects Opitz BBBG syndrome |
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