Neu–Laxova Syndrome

Reference work entry

The Neu–Laxova syndrome is a lethal disorder characterized by multiple congenital malformations. Microcephaly, lissencephaly, absence of corpus callosum, facial anomalies (notably absent eyelids), short broad neck, peripheral edema, ichthyosis, limb anomalies, and other malformations are common findings. The syndrome was described first by Neu et al. in 1971 and Laxova et al. in 1972 (Neu et al. 1971; Laxova et al. 1972).

Genetics/Basic Defects

  1. 1.

    Inheritance: autosomal recessive inheritance (King et al. 1995)

     
  2. 2.
    Pathogenesis (Coto-Puckett et al. 2010): remains unknown and differing etiologies have been postulated:
    1. a.

      A form of neuroectodermal dysplasia given the CNS and skin findings (Lazjuk et al. 1979; Ejeckam et al. 1986; Muller et al. 1987; Naveed and Sreenivas 1990)

       
    2. b.

      CNS pathology described as a neuronal migration defect with arrest of development early at 12–14 weeks of embryogenesis (Muller et al. 1987; Ostrovskaya and Lazjuk 1988)

       
    3. c.

      A neurodegenerative disorder with...

Keywords

Limb Anomaly Lethal Disorder Cystic Hygromas Neuronal Migration Defect Harlequin Ichthyosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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