Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

Kjell Helenius; Riitta Parkkola; Anita Arola; Ville Peltola; Maria K Haanpää

doi:10.1016/j.ejmg.2022.104626

Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

Eur J Med Genet. 2022 Nov;65(11):104626. doi: 10.1016/j.ejmg.2022.104626. Epub 2022 Sep 22.

Authors

Kjell Helenius¹, Riitta Parkkola², Anita Arola³, Ville Peltola⁴, Maria K Haanpää⁵

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland. Electronic address: kkhele@utu.fi.
² Department of Radiology, Finland.
³ Department of Paediatrics and Adolescent Medicine, Finland.
⁴ Department of Paediatrics and Adolescent Medicine, Finland; University of Turku, Turku, Finland.
⁵ Department of Genomics and Medical Genetics, Turku University Hospital, Finland; University of Turku, Turku, Finland.

PMID: 36155125
DOI: 10.1016/j.ejmg.2022.104626

Abstract

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.

Keywords: Brain MRI; Fetal imaging; Noonan syndrome; Very preterm infant.

Publication types

Case Reports

MeSH terms

Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Noonan Syndrome* / diagnostic imaging
Noonan Syndrome* / genetics
Pregnancy