Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.