Title of article
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome
Author/Authors
Rachisan, Andreea Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Cainap, Simona Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Andreica, Mariana Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Miu, Nicolae Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania
Pages
5
From page
121
To page
125
Abstract
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.
Keywords
Ectodermal Dysplasia , Cleft Lip And/Or Palate , Ankyloblepharon , Mental Retardation
Journal title
Astroparticle Physics
Serial Year
2011
Record number
2442943
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