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

Document Type : CASE REPORT

Authors
Behzad Barekatain 1
Alireza Sadeghnia 1
Elham Rouhani 2
Ghazaleh Jamalipoor Soofi 3
1 Department of Neonatology, Isfahan University of Medical Sciences, Isfahan, Iran
2 Department of Pathology, Isfahan University of Medical Sciences, Isfahan, Iran
3 Department of Radiology, Isfahan University of Medical Sciences, Isfahan, Iran
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.

Keywords

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Advanced Biomedical Research
Volume 2018, April
April 2018
Pages 1-3