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- W3173128986 abstract "espanolEl sindrome de Noonan es una enfermedad genetica caracterizada por alteraciones fenotipicas faciales, baja estatura, malformaciones cardiacas y de la pared toracica, retraso del neurodesarrollo, infertilidad y discrasias sanguineas. Su diagnostico es clinico, con posterior confirmacion genetica. A nivel psicopatologico, los pacientes afectados por este sindrome presentan, sobre todo, problemas cognitivos, de retraso en el lenguaje y de atencion en la infancia y problemas relacionados con la esfera afectiva en la edad adulta. Presentamos el caso de un varon de 39 anos con un primer episodio psicotico, con sintomatologia positiva en primer plano, en el contexto de un diagnostico previo de sindrome de Noonan. EnglishFirst psychotic episode in a patient with Noonan syndrome. A case report Noonan syndrome is a genetic disease characterised by phenotypic facial abnormalities, short stature, heart and chest wall malformations, delayed neurodevelopment, infertility, and blood dyscrasias. Diagnosis is clinical, with subsequent genetic confirmation. At the psychopathological level, patients with this syndrome present cognitive problems, delayed language development and attention problems in childhood, and impaired affective functioning in adulthood. We present the case of a 39-year-old male with a first psychotic episode, with prominently positive symptoms, in the context of a previous diagnosis of Noonan syndrome." @default.
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- W3173128986 date "2021-05-01" @default.
- W3173128986 modified "2023-09-27" @default.
- W3173128986 title "Primer episodio psicótico en un paciente con síndrome de Noonan. A propósito de un caso" @default.
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- W3173128986 doi "https://doi.org/10.1016/j.psiq.2021.100314" @default.
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