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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952546PMC
http://dx.doi.org/10.4103/abr.abr_143_17DOI Listing

Publication Analysis

Top Keywords

neu-laxova syndrome
8
facial dysmorphic
8
dysmorphic features
8
case neu-laxova
4
syndrome infant
4
infant facial
4
facial dysmorphism
4
dysmorphism arthrogryposis
4
arthrogryposis ichthyosis
4
ichthyosis microcephalia
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!