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Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni, Chiara; Viscogliosi, Germana; Tartaglia, Marco; Aoki, Yoko; Zampino, Giuseppe.
Afiliação
  • Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.
  • Viscogliosi G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.
J Multidiscip Healthc ; 15: 1277-1296, 2022.
Article em En | MEDLINE | ID: mdl-35677617
Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Guideline Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Guideline Idioma: En Ano de publicação: 2022 Tipo de documento: Article