Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome.
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Noonan
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
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Infant
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Newborn
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Pregnancy
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article