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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...

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Detalles Bibliográficos
Autores principales: Rathore, Ehsan, Rathore, Altaf Hussain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2017
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
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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.
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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
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