Neu–Laxova syndrome: a case report and review of the literature |
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Authors: | M Ugras&dagger ,G Kocak&dagger ,H Ozcan&Dagger |
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Affiliation: | Department of Paediatrics, Inonu University, Malatya, Turkey. meltemkorkut@yahoo.com |
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Abstract: | Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey. |
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Keywords: | growth retardation ichthyosis Neu–Laxova syndrome |
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