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.
Guerra
Maria P
MP
Department of Obstetric and Gynaecology, Section of Neonatology and Intensive Care Unit, University Hospital of Modena, Via del Pozzo 71, 41100 Modena, Italy. guerramp@yahoo.it
Hrachovy
Richard A
RA
Lugli
Licia
L
Mizrahi
Eli M
EM
Ferrari
Fabrizio
F
D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D001921:Brain / Q000002:abnormalities / Q000503:physiopathology*; D003286:Contracture / Q000151:congenital*; D004569:Electroencephalography; D004827:Epilepsy / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006526:Hepatitis C; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D011297:Prenatal Exposure Delayed Effects; D019966:Substance-Related Disorders