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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 (...

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Detalles Bibliográficos
Autores principales: Rachisan, Andreea Liana, Cainap, Simona, Andreica, Mariana, Miu, Nicolae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446118/
https://www.ncbi.nlm.nih.gov/pubmed/23056777
Descripción
Sumario: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.