Facio-cardio-renal (Eastman-Bixler) syndrome.
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.
Nevin
N C
NC
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Hill
A E
AE
Carson
D J
DJ
D000015:Abnormalities, Multiple / Q000145:classification* / Q000628:therapy; D000328:Adult; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013577:Syndrome