BBBG syndrome or Opitz syndrome: new family
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 th...
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Published in | American journal of medical genetics Vol. 34; no. 3; p. 313 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
United States
01.11.1989
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Subjects | |
Online Access | Get more information |
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Summary: | 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. |
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ISSN: | 0148-7299 |
DOI: | 10.1002/ajmg.1320340303 |