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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.