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Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome.
Helenius, Kjell; Parkkola, Riitta; Arola, Anita; Peltola, Ville; Haanpää, Maria K.
Afiliação
  • Helenius K; Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland. Electronic address: kkhele@utu.fi.
  • Parkkola R; Department of Radiology, Finland.
  • Arola A; Department of Paediatrics and Adolescent Medicine, Finland.
  • Peltola V; Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland.
  • Haanpää MK; Department of Genomics and Medical Genetics, Turku University Hospital, Finland; University of Turku, Turku, Finland.
Eur J Med Genet ; 65(11): 104626, 2022 Nov.
Article em En | MEDLINE | ID: mdl-36155125
Noonan syndrome is a genetically heterogeneous developmental disorder, which usually includes findings such as short stature, facial dysmorphia, cardiac abnormalities and a varying degree of intellectual disability. We present a unique case of a rare variant of Noonan syndrome in a very preterm female infant born at 28 + 4 gestational weeks, with abnormal radiological findings visible at fetal magnetic resonance imaging (MRI) and evolution of the brain lesions during infancy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant / Newborn / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant / Newborn / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article