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Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome
BACKGROUND: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. CASE PRESENTATION: We report a case with a clinical diagnosis of Hay Wells syndrome (...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446118/ https://www.ncbi.nlm.nih.gov/pubmed/23056777 |
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author | Rachisan, Andreea Liana Cainap, Simona Andreica, Mariana Miu, Nicolae |
author_facet | Rachisan, Andreea Liana Cainap, Simona Andreica, Mariana Miu, Nicolae |
author_sort | Rachisan, Andreea Liana |
collection | PubMed |
description | BACKGROUND: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. CASE PRESENTATION: We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation). CONCLUSION: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features. |
format | Online Article Text |
id | pubmed-3446118 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-34461182012-10-09 Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome Rachisan, Andreea Liana Cainap, Simona Andreica, Mariana Miu, Nicolae Iran J Pediatr Case Report BACKGROUND: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. CASE PRESENTATION: We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation). CONCLUSION: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features. Tehran University of Medical Sciences 2011-03 /pmc/articles/PMC3446118/ /pubmed/23056777 Text en © 2011 Iranian Journal of Pediatrics & Tehran University of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. |
spellingShingle | Case Report Rachisan, Andreea Liana Cainap, Simona Andreica, Mariana Miu, Nicolae Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title | Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title_full | Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title_fullStr | Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title_full_unstemmed | Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title_short | Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome |
title_sort | ectodermal dysplasia showing the clinical overlap between hay wells syndrome and bowen armstrong syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446118/ https://www.ncbi.nlm.nih.gov/pubmed/23056777 |
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