A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern

Pachygyria, joint contractures and facial abnormalities have been reported in the literature very rarely. These features constitute a new lethal syndrome. We describe a male infant who represents an additional case of the same lethal syndrome first described in 1989. The patient also presented an early-onset epileptic encephalopathy with a suppression-burst EEG pattern.