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Netherton syndrome: A neonatal case with respiratory insufficiency
Emel Okulu1, Gaffari Tunc2, Omer Erdeve2
1Department of Pediatrics, Division of Neonatology, Ankara University, Faculty of Medicine, Ankara, Turkey. emelokulu@gmail.com.
Abstract:
Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.
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