Related Experiment Videos
Facio-cardio-renal (Eastman-Bixler) syndrome
N C Nevin1, A E Hill, D J Carson
1Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
American Journal of Medical Genetics
|July 1, 1991
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.