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Apert Syndrome: Report of a rare congenital malformation
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adju...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Professional Medical Publications
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510146/ https://www.ncbi.nlm.nih.gov/pubmed/28811814 http://dx.doi.org/10.12669/pjms.333.12878 |
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author | Rathore, Ehsan Rathore, Altaf Hussain |
author_facet | Rathore, Ehsan Rathore, Altaf Hussain |
author_sort | Rathore, Ehsan |
collection | PubMed |
description | A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work. |
format | Online Article Text |
id | pubmed-5510146 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Professional Medical Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-55101462017-08-15 Apert Syndrome: Report of a rare congenital malformation Rathore, Ehsan Rathore, Altaf Hussain Pak J Med Sci Case Report A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work. Professional Medical Publications 2017 /pmc/articles/PMC5510146/ /pubmed/28811814 http://dx.doi.org/10.12669/pjms.333.12878 Text en Copyright: © Pakistan Journal of Medical Sciences http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Rathore, Ehsan Rathore, Altaf Hussain Apert Syndrome: Report of a rare congenital malformation |
title | Apert Syndrome: Report of a rare congenital malformation |
title_full | Apert Syndrome: Report of a rare congenital malformation |
title_fullStr | Apert Syndrome: Report of a rare congenital malformation |
title_full_unstemmed | Apert Syndrome: Report of a rare congenital malformation |
title_short | Apert Syndrome: Report of a rare congenital malformation |
title_sort | apert syndrome: report of a rare congenital malformation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510146/ https://www.ncbi.nlm.nih.gov/pubmed/28811814 http://dx.doi.org/10.12669/pjms.333.12878 |
work_keys_str_mv | AT rathoreehsan apertsyndromereportofararecongenitalmalformation AT rathorealtafhussain apertsyndromereportofararecongenitalmalformation |