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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2013
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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. |
format | Online Article Text |
id | pubmed-3830245 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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