| Literature DB >> 2688419 |
A Verloes1, M Le Merrer, M L Briard.
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.Entities:
Mesh:
Year: 1989 PMID: 2688419 DOI: 10.1002/ajmg.1320340303
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299