title: Kabuki make-up syndrome associated with West syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Mitsudome
authors.forename: S
authors.initials: S
authors.lastname: Yasumoto
authors.forename: S
authors.initials: S
authors.lastname: Fukami
authors.forename: A
authors.initials: A
authors.lastname: Ogawa
mesh_terms: 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