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Njølstad syndrome

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Njølstad syndrome is a syndrome characterized by non-immune hydrops fetalis (NIHF), congenital pulmonary lymphangiectasia (CPL).[1] Clinical features found in Njølstad syndrome include: facial and limbs lymphedema,[1][2] facial abnormalities (thin upper lip, protruding ears), pectus excavatum and vulvar and labial edema.[3]

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It is named after the Norwegian pediatrician Pål Rasmus Njølstad who published a report on three siblings with the condition in 1997.[1]

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