Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Abstract excerpt

Fetal pleural effusions can arise in various contexts with different prognosis. They have been reported in fetuses presenting with hereditary or acquired conditions. One particularly rare genetic disorder, known as Knobloch syndrome, seems to emerge as a potential new cause of fetal pleural effusions, associated with severe outcomes. Knobloch syndrome 1 can be caused by biallelic variants in COL18A1. It is...

Topics

• Female
• Humans
• Pregnancy
• Mutation, Missense
• p21-Activated Kinases
• Phenotype
• Pleural Effusion