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Neu–Laxova syndrome: a case report and review of the literature
Author(s) -
Ugras M,
Kocak G,
Ozcan H
Publication year - 2006
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/j.1468-3083.2006.01645.x
Subject(s) - medicine , microcephaly , girl , pediatrics , ichthyosis , growth retardation , congenital ichthyosis , dermatology , pregnancy , genetics , biology
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.