BBBG syndrome or opitz syndrome: New family
- 1 November 1989
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 34 (3) , 313-316
- https://doi.org/10.1002/ajmg.1320340303
Abstract
We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.Keywords
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