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

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 infa...

Descripción completa

Detalles Bibliográficos
Autores principales: Barekatain, Behzad, Sadeghnia, Alireza, Rouhani, Elham, Soofi, Ghazaleh Jamalipoor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952546/
https://www.ncbi.nlm.nih.gov/pubmed/29862217
http://dx.doi.org/10.4103/abr.abr_143_17
_version_ 1783323208601042944
author Barekatain, Behzad
Sadeghnia, Alireza
Rouhani, Elham
Soofi, Ghazaleh Jamalipoor
author_facet Barekatain, Behzad
Sadeghnia, Alireza
Rouhani, Elham
Soofi, Ghazaleh Jamalipoor
author_sort Barekatain, Behzad
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5952546
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-59525462018-06-01 A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia Barekatain, Behzad Sadeghnia, Alireza Rouhani, Elham Soofi, Ghazaleh Jamalipoor Adv Biomed Res Case Report 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. Medknow Publications & Media Pvt Ltd 2018-04-24 /pmc/articles/PMC5952546/ /pubmed/29862217 http://dx.doi.org/10.4103/abr.abr_143_17 Text en Copyright: © 2018 Advanced Biomedical Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Barekatain, Behzad
Sadeghnia, Alireza
Rouhani, Elham
Soofi, Ghazaleh Jamalipoor
A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title_full A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title_fullStr A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title_full_unstemmed A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title_short A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
title_sort new case of neu–laxova syndrome: infant with facial dysmorphism, arthrogryposis, ichthyosis, and microcephalia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952546/
https://www.ncbi.nlm.nih.gov/pubmed/29862217
http://dx.doi.org/10.4103/abr.abr_143_17
work_keys_str_mv AT barekatainbehzad anewcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT sadeghniaalireza anewcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT rouhanielham anewcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT soofighazalehjamalipoor anewcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT barekatainbehzad newcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT sadeghniaalireza newcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT rouhanielham newcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia
AT soofighazalehjamalipoor newcaseofneulaxovasyndromeinfantwithfacialdysmorphismarthrogryposisichthyosisandmicrocephalia

Ejemplares similares