title: [A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy].
abstract: We reported here a case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome (TRPS) type II) associated with epilepsy. TRPS type II is an uncommon genetic disease characterized by sparse, slowly growing scalp hair, pear-shaped nose, multiple cartilagenous exostosis and mental retardation associated with delayed speech development. This patient displayed typical features of this syndrome. He also showed arachnoid cyst in the frontal area on computer tomography of the brain, and paroximal activities on EEG. Chromosomal analysis revealed a partial deletion of the long arm of chromosome 8. He had afebrile convulsion which is a rare complication of this syndrome.
authors.affiliation: Department of Pediatrics, Kinki University, School of Medicine, Osaka-Sayama.
authors.forename: T
authors.initials: T
authors.lastname: Takemura
authors.forename: K
authors.initials: K
authors.lastname: Yoshioka
authors.forename: M
authors.initials: M
authors.lastname: Okada
mesh_terms: D000328:Adult; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications*; D005500:Follow-Up Studies; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D014057:Tomography, X-Ray Computed