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Brief Clinical Report
Facio-cardio-renal (Eastman-Bixler) syndrome
Article first published online: 6 JUN 2005
DOI: 10.1002/ajmg.1320400106
Copyright © 1991 Wiley-Liss, Inc., A Wiley Company
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
Nevin, N. C., Hill, A. E. and Carson, D. J. (1991), Facio-cardio-renal (Eastman-Bixler) syndrome. Am. J. Med. Genet., 40: 31–33. doi: 10.1002/ajmg.1320400106
Publication History
- Issue published online: 6 JUN 2005
- Article first published online: 6 JUN 2005
- Manuscript Revised: 12 OCT 1990
- Manuscript Received: 6 FEB 1990
- Abstract
- References
- Cited By
Keywords:
- mental retardation;
- horseshoe kidneys;
- congenital heart defect;
- cleft palate;
- growth hormone deficiency;
- Eastman-Bixler syndrome
Abstract
We report on a 5-year-old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal root, prominent ears, and a cleft palate. These manifestations suggested the diagnosis of the Eastman-Bixler syndrome. Our patient also had an isolated growth hormone deficiency which responded successfully to treatment.