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This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology. Although it has been known as a female condition, nowadays it is described the possibility of affected males with a different phenotype. Keywords: Rett syndrome. Mental retardation. Multiple handicap. Clinical genetics.

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This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology.

Although it has been known as a female condition, nowadays it is described the possibility of affected males with a different phenotype. Keywords: Rett syndrome. Mental retardation. Multiple handicap. Clinical genetics. No Brasil, a SR foi inicialmente identificada por Rosemberg et al 3,4 , Julu et al 17 estudaram, sob este ponto de vista, 17 meninas com a SR. Rett A. Wein Med Wochenschr ; A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Ann Neurol ; A Brazilian girl with the Rett syndrome. Brain Dev ; Arq Neuropsiquiat ; Schwartzman JS. Temas sobre Desenvolvimento ; Diagnostic Criteria for Rett Syndrome. Dornelles C, tradutora. Porto Alegre: Artmed; Hagberg B, Skjeldal OH.

Rett variants: a suggested model for inclusion criteria. Pediatr Neurol ; Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet ; Schwartzman F. Nomura Y, Segawa M. Clinical features of the early stage of the Rett syndrome.

Mind and brain in Rett disorder. Brain Dev ;SS9. Three decades of sociomedical experiences from West Swedish Rett females years of age.

Brain Dev ;S Dunn HG. Importance of Rett syndrome in child neurology. Immaturity of medullary cardiorespiratory neurones leading to inappropriate autonomic reactions as a likely cause of sudden death in Rett's syndrome.

Arch Dis Child ; Coleman M. Is classical Rett syndrome ever present in males? A boy with the Rett syndrome? Philippart M. The Rett syndrome in males. Nat Genet ; Am J Hum Genet ; Neuropediatrics ; Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients. Hum Mol Genet ; Neuron ; Neurology ; Morphological study of neocortical areas in Rett syndrome.

Acta Neuropathol ; All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Journal. ABSTRACT This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology.

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