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Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report

Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts wit...

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Autores principales: Rahmati, Mohammadbagher, Yazdanparast, Maryam, Jahanshahi, Keramatallah, Zakeri, Mohadese
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Electronic physician 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623801/
https://www.ncbi.nlm.nih.gov/pubmed/26516448
http://dx.doi.org/10.14661/1391
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author Rahmati, Mohammadbagher
Yazdanparast, Maryam
Jahanshahi, Keramatallah
Zakeri, Mohadese
author_facet Rahmati, Mohammadbagher
Yazdanparast, Maryam
Jahanshahi, Keramatallah
Zakeri, Mohadese
author_sort Rahmati, Mohammadbagher
collection PubMed
description Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation.
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spelling pubmed-46238012015-10-29 Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report Rahmati, Mohammadbagher Yazdanparast, Maryam Jahanshahi, Keramatallah Zakeri, Mohadese Electron Physician Case Report Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation. Electronic physician 2015-10-19 /pmc/articles/PMC4623801/ /pubmed/26516448 http://dx.doi.org/10.14661/1391 Text en © 2015 The Authors This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/3.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Report
Rahmati, Mohammadbagher
Yazdanparast, Maryam
Jahanshahi, Keramatallah
Zakeri, Mohadese
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title_full Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title_fullStr Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title_full_unstemmed Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title_short Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report
title_sort congenital cutis laxa type 2 associated with recurrent aspiration pneumonia and growth delay: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623801/
https://www.ncbi.nlm.nih.gov/pubmed/26516448
http://dx.doi.org/10.14661/1391
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