Timothy syndrome (TS) is an autosomal dominant condition with the constellation 
of features including prolonged QT interval, hand and foot abnormalities, and 
mental retardation or autism. Splawski et al. [2004] previously described two 
phenotypes associated with TS distinguished by two unique and different 
mutations within the CACNA1C gene. We report on a newborn who presented with 
prolonged QT interval and associated polymorphic ventricular tachycardia, 
dysmorphic facial features, syndactyly of the hands and feet, and joint 
contractures, suggestive of TS. He developed a stroke, subsequent intractable 
seizures, and was found to have cortical blindness and later profound 
developmental delay. Initial targeted mutation analysis did not identify either 
of the previously described TS associated mutations; however, full gene 
sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly). The clinical 
and genetic findings in our case expand both the clinical and molecular 
knowledge of TS.