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Neu-Laxova Syndrome
Introduction
Neu-Laxova syndrome (NLS) is an autosomal recessive, lethal disorder. The syndrome was first described in 1971 by Neu et al. who reported three siblings who were either stillborn or died shortly after birth with microcephaly and multiple congenital anomalies. In 1972 Laxova et al. reported three siblings born to consanguineous parents with similar findings. In 1979 Lazjuk et al. described another case with similar findings and named the disorder. The prognosis for fetuses with NLS is poor because they either are delivered stillborn or die shortly after birth.
Disease
Definition
There are no formal diagnostic criteria for NLS. The diagnosis is based on clinical findings. The most commonly described characteristics are intrauterine growth restriction (IUGR), microcephaly, dysmorphic facies, central nervous system (CNS) malformations, ichthyosis, and limb deformities.
Prevalence and Epidemiology
NLS is a rare disorder with less than 100 reported cases. There does not appear to be a predilection for the syndrome in certain ethnic backgrounds.
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