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Apert's syndrome: Report of a rare case

Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosyn...

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Autores principales: Bhatia, Parul V, Patel, Purv S, Jani, Yesha V, Soni, Naresh C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830245/
https://www.ncbi.nlm.nih.gov/pubmed/24250097
http://dx.doi.org/10.4103/0973-029X.119782
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author Bhatia, Parul V
Patel, Purv S
Jani, Yesha V
Soni, Naresh C
author_facet Bhatia, Parul V
Patel, Purv S
Jani, Yesha V
Soni, Naresh C
author_sort Bhatia, Parul V
collection PubMed
description Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.
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spelling pubmed-38302452013-11-18 Apert's syndrome: Report of a rare case Bhatia, Parul V Patel, Purv S Jani, Yesha V Soni, Naresh C J Oral Maxillofac Pathol Case Report Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3830245/ /pubmed/24250097 http://dx.doi.org/10.4103/0973-029X.119782 Text en Copyright: © Journal of Oral and Maxillofacial Pathology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Bhatia, Parul V
Patel, Purv S
Jani, Yesha V
Soni, Naresh C
Apert's syndrome: Report of a rare case
title Apert's syndrome: Report of a rare case
title_full Apert's syndrome: Report of a rare case
title_fullStr Apert's syndrome: Report of a rare case
title_full_unstemmed Apert's syndrome: Report of a rare case
title_short Apert's syndrome: Report of a rare case
title_sort apert's syndrome: report of a rare case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830245/
https://www.ncbi.nlm.nih.gov/pubmed/24250097
http://dx.doi.org/10.4103/0973-029X.119782
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