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Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion.
Traficante, Giovanna; Biagiotti, Roberto; Andreucci, Elena; Di Tommaso, Mariarosaria; Provenzano, Aldesia; Cariati, Ettore; Giglio, Sabrina.
Afiliação
  • Traficante G; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
  • Biagiotti R; Medical and Surgical Feto-Neonatal Department, Meyer Children's University Hospital Florence, Italy.
  • Andreucci E; Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.
  • Di Tommaso M; Department of Health Sciences, University of Florence Florence, Italy.
  • Provenzano A; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy.
  • Cariati E; Medical and Surgical Feto-Neonatal Department, Meyer Children's University Hospital Florence, Italy.
  • Giglio S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence Florence, Italy ; Medical Genetics Unit, Meyer Children's University Hospital Florence, Italy.
Clin Case Rep ; 3(7): 643-5, 2015 Jul.
Article em En | MEDLINE | ID: mdl-26273461
ABSTRACT
This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article