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Article

External hydrocephalus as a prenatal feature of noonan syndrome.

Annals of human genetics - 1 Nov 2021

Mastromoro Gioia, De Luca Alessandro, Marchionni Enrica, Spagnuolo Antonella, Ventriglia Flavia, Manganaro Lucia, Pizzuti Antonio

Abstract excerpt

Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructive form of cerebrospinal fluid accumulation around the brain. It was described in a few patients with mutations of other genes than PTPN11, such as SOS1 and SHOC2 and never in prenatal diagnosis. The aim of this case report is to describe the prenatal presentation of a fetus with Noonan syndrome (NS)...

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PMID: 34075583
DOI: 10.1111/ahg.12436

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