Kabuki make-up syndrome associated with West syndrome.
A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome.
Mitsudome
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A
Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
Yasumoto
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S
Fukami
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Ogawa
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A
D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D019066:Facies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D013577:Syndrome