Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1782397743665250304 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4623801 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Electronic physician |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT rahmatimohammadbagher congenitalcutislaxatype2associatedwithrecurrentaspirationpneumoniaandgrowthdelaycasereport AT yazdanparastmaryam congenitalcutislaxatype2associatedwithrecurrentaspirationpneumoniaandgrowthdelaycasereport AT jahanshahikeramatallah congenitalcutislaxatype2associatedwithrecurrentaspirationpneumoniaandgrowthdelaycasereport AT zakerimohadese congenitalcutislaxatype2associatedwithrecurrentaspirationpneumoniaandgrowthdelaycasereport |