Article
A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.
Fetal and pediatric pathology - 1 Jan 2010
Coto-Puckett Wendy L, Gilbert-Barness Enid, Steelman Charlotte K, Stuart Tami, Robinson Haynes B, Shehata Bahig M
Abstract excerpt
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70 cases have been described since the first report in 1971. To this day the etiology and genetic basis remains unknown....
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