A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.

A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.
Adv Biomed Res. 2018;7:68
Authors: Barekatain B, Sadeghnia A, Rouhani E, Soofi GJ
Abstract
Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS.
PMID: 29862217 [PubMed]

Source: Biomed Res - June 6, 2018 Category: Research Authors: Barekatain B, Sadeghnia A, Rouhani E, Soofi GJ Tags: Adv Biomed Res Source Type: research