Facio-cardio-renal (Eastman-Bixler) syndrome

Am J Med Genet. 1991 Jul 1;40(1):31-3. doi: 10.1002/ajmg.1320400106.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification*
  • Abnormalities, Multiple / therapy
  • Adult
  • Child, Preschool
  • Cleft Palate / complications*
  • Female
  • Heart Defects, Congenital / complications*
  • Humans
  • Kidney / abnormalities*
  • Male
  • Syndrome