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

Publisher: Elsevier

: 2022

: European Journal of Medical Genetics

: European journal of medical genetics

: Eur J Med Genet

: 104626

: 65

: 11

: 1769-7212

: 1878-0849

DOI: https://doi.org/10.1016/j.ejmg.2022.104626

: https://www.sciencedirect.com/science/article/pii/S1769721222002075?via%3Dihub

: https://research.utu.fi/converis/portal/detail/Publication/176747910


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.

Last updated on 2024-26-11 at 22:13