Neu–Laxova syndrome
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Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povysilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form)[1] is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971[2] and Dr. Renata Laxova in 1972[3] as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature.
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Quick Facts Other names, Specialty ...
Neu–Laxova syndrome | |
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Other names | Neu-Povysilová syndrome; Neu syndrome; 3-phosphoglycerate dehydrogenase deficiency, neonate form |
Specialty | Medical genetics |
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